MUTYH-3 A368fs*26 [nucleoplasm]

Stable Identifier
R-HSA-9606455
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
MUTYH-3 Ala368fs*26, MUTYH-3 c.1103delC, MUTYH alpha-3 A368fs*26, MUTYH alpha-3 Ala368fs*26, MUTYH alpha-3 c.1103delC
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
15987719 Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair

Tomlinson, IP, Shi, C, Parker, AR, Eshleman, JR, Sieber, OM, Takao, M, Hua, L

Carcinogenesis 2005
18534194 Characterization of mutant MUTYH proteins associated with familial colorectal cancer

Ali, M, Bristow, R, Gallinger, S, Cleary, S, Kim, H, Cupples, C

Gastroenterology 2008
External Reference Information
External Reference
Gene Names
MUTYH, MYH
Participates
Other forms of this molecule
Modified Residues
Name
Replacement of residues 368 to 535 by ALGPKFCWCRGPTQVCWQDCGSSRP
Disease
Name Identifier Synonyms
familial adenomatous polyposis DOID:0050424 adenomatous polyposis of the colon
colorectal cancer DOID:9256
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