PMS2 R134* [nucleoplasm]

Stable Identifier
R-HSA-5632982
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
PMS2 ARG134TER, Mismatch repair endonuclease PMS2 ecNumber3.1.-.-/ecNumber, PMS2_HUMAN
PMS2 R134* [nucleoplasm] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
7661930 The molecular basis of Turcot's syndrome

Powell, SM, Papadopoulos, N, Berk, T, Parsons, RE, Krush, AJ, Jen, J, Cohen, Z, Hamilton, SR, Tetu, B, Liu, B

N. Engl. J. Med. 1995
External Reference Information
External Reference
Gene Names
PMS2, PMSL2
Chain
chain:1-862
Other Identifiers
0003290204
11743017_s_at
11747521_s_at
11761599_x_at
17054923
2015_s_at
209805_PM_at
209805_at
221206_PM_at
221206_at
2989291
2989293
2989294
2989295
2989298
2989299
2989300
2989302
2989303
2989310
2989311
2989312
2989313
2989314
2989315
2989317
2989318
2989319
2989320
3037138
3037139
3037140
3037141
3037143
3037144
3037145
3037146
3037147
3037153
3037154
3037156
3037158
3037161
3037162
3037163
3037164
3037165
3037166
3037168
3037169
3037170
3037171
3037174
3037180
3037184
38556_at
526_s_at
5395
8138030
90795_at
91244_at
A_23_P6589
A_23_P93792
GO:0002376
GO:0003677
GO:0003697
GO:0004518
GO:0004519
GO:0005515
GO:0005524
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005886
GO:0006281
GO:0006298
GO:0006974
GO:0009410
GO:0016446
GO:0016787
GO:0016887
GO:0030983
GO:0032138
GO:0032300
GO:0032389
GO:0032407
GO:0032991
GO:0036464
GO:0043226
GO:0048856
GO:0090305
GO:0140097
GO:0140299
GO:0140657
GO:0140664
HMNXSV003047392
ILMN_1673862
ILMN_1732171
ILMN_1808300
ILMN_2262203
ILMN_2329744
PH_hs_0027938
TC07001124.hg
TC07002131.hg
TC07002777.hg
U13696_s_at
g13375661_3p_at
g13375661_3p_x_at
g557469_3p_at
Participates
Other forms of this molecule
Modified Residues
Name
Nonsense mutation at L-arginine 134
Coordinate
134
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
colorectal cancer DOID:9256
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