PALB2 Q251* [nucleoplasm]

Stable Identifier
R-HSA-9724620
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Icon
PALB2 Q251* [nucleoplasm] icon
PALB2 Q251* [nucleoplasm] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
31636395 Functional characterization of 84 PALB2 variants of uncertain significance

Simard, J, Xia, B, Hu, C, Foo, TK, Carvalho, MA, Rodrigue, A, Belur Nagaraj, A, Gomes, TT, Couch, FJ, Masson, JY, Lee, KY, Wiltshire, T, Monteiro, ANA, Ducy, M

Genet Med 2020
External Reference Information
External Reference
UniProt:Q86YC2 PALB2
Gene Names
PALB2, FANCN
Chain
chain:1-1186
Reference Genes
BioGPS Gene:79728 PALB2
COSMIC (genes):PALB2 PALB2
CTD Gene:79728 PALB2
dbSNP Gene:79728 PALB2
ENSEMBL:ENSG00000083093 PALB2
HGNC:26144 PALB2
KEGG:hsa:79728 PALB2
Monarch:79728 PALB2
NCBI Gene:79728 PALB2
OMIM:610355 PALB2
UCSC:Q86YC2 PALB2
Reference Transcript
Other Identifiers
11722944_at
16825104
219530_PM_at
219530_at
3685330
3685331
3685332
3685333
3685335
3685337
3685338
3685339
3685341
3685344
3685345
3685346
3685347
3685348
3685349
3685350
3685351
3685352
3685354
3685355
3685356
3685357
3685358
3685359
3685361
47111_at
79728
8000329
A_23_P129569
GE87453
GO:0000724
GO:0001701
GO:0001756
GO:0001833
GO:0003677
GO:0005515
GO:0005634
GO:0005654
GO:0006281
GO:0006310
GO:0006915
GO:0007498
GO:0009887
GO:0012501
GO:0016607
GO:0032991
GO:0035264
GO:0036342
GO:0043066
GO:0043226
GO:0048568
GO:0048856
GO:1990391
HMNXSV003032667
ILMN_1723793
PH_hs_0025983
TC16000967.hg
g13375939_3p_at
Participates
as a candidate of
Other forms of this molecule
PALB2 Y28C [nucleoplasm]
PALB2 L35P [nucleoplasm]
PALB2 L24S [nucleoplasm]
PALB2 L21A [nucleoplasm]
PALB2 R37H [nucleoplasm]
PALB2 L21F [nucleoplasm]
PALB2 E12* [nucleoplasm]
PALB2 R37C [nucleoplasm]
PALB2 L35F [nucleoplasm]
PALB2 L947F [nucleoplasm]
PALB2 G1043D [nucleoplasm]
PALB2 T1030I [nucleoplasm]
PALB2 T841Qfs*10 [nucleoplasm]
PALB2 L1119P [nucleoplasm]
PALB2 L947S [nucleoplasm]
PALB2 L1143P [nucleoplasm]
PALB2 L1070P [nucleoplasm]
PALB2 C77Vfs*100 [nucleoplasm]
PALB2 L939W [nucleoplasm]
PALB2 L961P [nucleoplasm]
PALB2 W912G [nucleoplasm]
PALB2 L531Cfs*30 [nucleoplasm]
PALB2 G1043A [nucleoplasm]
PALB2 W1140G [nucleoplasm]
PALB2 G937R [nucleoplasm]
PALB2 I944N [nucleoplasm]
PALB2 Y551* [nucleoplasm]
PALB2 G1121Vfs*3 [nucleoplasm]
PALB2 L1006Ffs*5 [nucleoplasm]
PALB2 L253Yfs*26 [nucleoplasm]
PALB2 G1166Vfs*25 [nucleoplasm]
PALB2 M723Vfs*21 [nucleoplasm]
PALB2 I76Yfs*101 [nucleoplasm]
PALB2 V132Afs*45 [nucleoplasm]
PALB2 F440Lfs*12 [nucleoplasm]
PALB2 Q988* [nucleoplasm]
PALB2 R794Sfs*57 [nucleoplasm]
PALB2 T799Lfs*53 [nucleoplasm]
PALB2 E956Kfs*6 [nucleoplasm]
PALB2 P522Qfs*39 [nucleoplasm]
PALB2 Y1108Sfs*16 [nucleoplasm]
PALB2 E1010* [nucleoplasm]
PALB2 W898Efs*29 [nucleoplasm]
PALB2 F816Sfs*35 [nucleoplasm]
PALB2 P1009Lfs*6 [nucleoplasm]
PALB2 F404Sfs*7 [nucleoplasm]
PALB2 H130Tfs*47 [nucleoplasm]
PALB2 I265Tfs*5 [nucleoplasm]
PALB2 K1098Nfs*23 [nucleoplasm]
PALB2 A935* [nucleoplasm]
PALB2 M296* [nucleoplasm]
PALB2 N1039Ifs*2 [nucleoplasm]
PALB2 A995Cfs*16 [nucleoplasm]
PALB2 E230* [nucleoplasm]
PALB2 S172Gfs*4 [nucleoplasm]
PALB2 E669Gfs*3 [nucleoplasm]
PALB2 D715Efs*2 [nucleoplasm]
PALB2 C882Wfs*3 [nucleoplasm]
PALB2 R37Cfs*5 [nucleoplasm]
PALB2 Y1183* [nucleoplasm]
PALB2 I1037T [nucleoplasm]
PALB2 W575* [nucleoplasm]
PALB2 S518* [nucleoplasm]
PALB2 Q370* [nucleoplasm]
PALB2 L451* [nucleoplasm]
PALB2 E658* [nucleoplasm]
PALB2 K346* [nucleoplasm]
PALB2 E263* [nucleoplasm]
PALB2 Y409* [nucleoplasm]
PALB2 R753* [nucleoplasm]
PALB2 K43Rfs*10 [nucleoplasm]
PALB2 E545* [nucleoplasm]
PALB2 H432Ffs*9 [nucleoplasm]
PALB2 E956* [nucleoplasm]
PALB2 Q613* [nucleoplasm]
PALB2 Q1056* [nucleoplasm]
PALB2 G796* [nucleoplasm]
PALB2 E667* [nucleoplasm]
PALB2 Q1091* [nucleoplasm]
PALB2 E384* [nucleoplasm]
PALB2 W1038* [nucleoplasm]
PALB2 E1002* [nucleoplasm]
PALB2 Q822* [nucleoplasm]
PALB2 S254* [nucleoplasm]
PALB2 E860* [nucleoplasm]
PALB2 Q66* [nucleoplasm]
PALB2 L1172P [nucleoplasm]
PALB2 L857* [nucleoplasm]
PALB2 E943* [nucleoplasm]
PALB2 [nucleoplasm]
PALB2 [cytosol]
PALB2 N280Tfs*8 [nucleoplasm]
PALB2 M296Nfs*7 [nucleoplasm]
PALB2 G1043C [nucleoplasm]
PALB2 L304* [nucleoplasm]
PALB2 P656Qfs*4 [nucleoplasm]
PALB2 F606Sfs*10 [nucleoplasm]
PALB2 W877Gfs*12 [nucleoplasm]
PALB2 I281Nfs*2 [nucleoplasm]
PALB2 S299Yfs*3 [nucleoplasm]
PALB2 I1035Mfs*6 [nucleoplasm]
PALB2 I429Rfs*22 [nucleoplasm]
PALB2 N450Ifs*2 [nucleoplasm]
PALB2 I76Mfs*4 [nucleoplasm]
PALB2 L972Q [nucleoplasm]
PALB2 Q60Rfs*7 [nucleoplasm]
PALB2 L176Nfs*3 [nucleoplasm]
PALB2 E884* [nucleoplasm]
PALB2 Q228* [nucleoplasm]
PALB2 G808* [nucleoplasm]
PALB2 R414* [nucleoplasm]
PALB2 Q559* [nucleoplasm]
Modified Residues
Name
Nonsense mutation at L-glutamine 251
Coordinate
251
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
breast cancer DOID:1612 malignant tumor of the breast, mammary cancer, malignant neoplasm of breast, mammary tumor, primary breast cancer, breast cancer, Ca breast - NOS, breast tumor
Cross References
RefSeq
LOVD
OpenTargets
ENSEMBL
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
PDB
Interactors (12)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P51587 BRCA2  20 0.972 30
 UniProt:P38398 BRCA1  20 0.909 27
 UniProt:Q06609 RAD51  2 0.845 9
 UniProt:Q14145 KEAP1  3 0.8 6
 UniProt:Q9UBU8 MORF4L1  1 0.725 6
 UniProt:Q9UBU8-2 MORF4L1      0.713 3
 UniProt:Q9Y253 POLH  2 0.672 7
 UniProt:O43502 RAD51C  1 0.612 10
 UniProt:O43542 XRCC3  1 0.577 3
 IntAct:EBI-4399559 UBIQ      0.544 2
 UniProt:Q15014 MORF4L2  1 0.527 3
 UniProt:P51784 USP11  1 0.499 2
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