MUTYH c.815G>A ;(p.C272Y)

Variant ID: 1-45797872-C-T

NM_001048174.1(MUTYH):c.815G>A;(p.C272Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Cold Spring Harbor Molecular Case Studies
Thibodeau, My Linh ML; Zhao, Eric Y EY; Reisle, Caralyn C; Ch'ng, Carolyn C; Wong, Hui-Li HL; Shen, Yaoqing Y; Jones, Martin R MR; Lim, Howard J HJ; Young, Sean S; Cremin, Carol C; Pleasance, Erin E; Zhang, Wei W; Holt, Robert R; Eirew, Peter P; Karasinska, Joanna J; Kalloger, Steve E SE; Taylor, Greg G; Majounie, Elisa E; Bonakdar, Melika M; Zong, Zusheng Z; Bleile, Dustin D; Chiu, Readman R; Birol, Inanc I; Gelmon, Karen K; Lohrisch, Caroline C; Mungall, Karen L KL; Mungall, Andrew J AJ; Moore, Richard R; Ma, Yussanne P YP; Fok, Alexandra A; Yip, Stephen S; Karsan, Aly A; Huntsman, David D; Schaeffer, David F DF; Laskin, Janessa J; Marra, Marco A MA; Renouf, Daniel J DJ; Jones, Steven J M SJM; Schrader, Kasmintan A KA
Publication Date: 2019-04

Variant appearance in text: MUTYH: 815G>A; Gly272Glu
PubMed Link: 30833417
Variant Present in the following documents:
  • Main text
  • MCS003681Thi.pdf
  • supp_mcs.a003681_Supplemental_Table_S1_cancer_types_MUTYH_status.xlsx, sheet 3
  • supp_mcs.a003681_Supplemental_Table_S5_ethnicity.xlsx, sheet 1
View BVdb publication page



Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

Human Mutation
Komine, Keigo K; Shimodaira, Hideki H; Takao, Masashi M; Soeda, Hiroshi H; Zhang, Xiaofei X; Takahashi, Masanobu M; Ishioka, Chikashi C
Publication Date: 2015-07

Variant appearance in text: MUTYH: 815G>A
PubMed Link: 25820570
Variant Present in the following documents:
  • Main text
  • humu0036-0704.pdf
View BVdb publication page