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MSH6 c.829G>T ;(p.E277*)
Variant ID: 2-48025951-G-T
NM_000179.2(
MSH6
):c.829G>T;(p.E277*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Scientific Reports
Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O
Publication Date: 2021-07-20
Variant appearance in text: MSH6: 829G>T; Glu277Ter
PubMed Link:
34285288
Variant Present in the following documents:
Main text
41598_2021_Article_94292.pdf
41598_2021_94292_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page
Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.
Genome Research
Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG
Publication Date: 2020-06
Variant appearance in text: MSH6: E277X
PubMed Link:
32661091
Variant Present in the following documents:
supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1
View BVdb publication page
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07
Variant appearance in text: MSH6: 829G>T; E277*
PubMed Link:
31925297
Variant Present in the following documents:
42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page