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MSH6 c.3254C>T ;(p.T1085I)
Variant ID: 2-48030640-C-T
NM_000179.2(
MSH6
):c.3254C>T;(p.T1085I)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.
Ebiomedicine
Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J
Publication Date: 2022-04
Variant appearance in text: rs761724581
PubMed Link:
35306340
Variant Present in the following documents:
mmc3.xlsx, sheet 2
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: MSH6: 3254C>T; Thr1085Ile; rs761724581
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.
Oncotarget
Porkka, Noora K NK; Olkinuora, Alisa A; Kuopio, Teijo T; Ahtiainen, Maarit M; Eldfors, Samuli S; Almusa, Henrikki H; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2020-04-07
Variant appearance in text: MSH6: 3254C>T; Thr1085Ile
PubMed Link:
32292574
Variant Present in the following documents:
oncotarget-11-1244-s003.xlsx, sheet 1
View BVdb publication page
Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.
Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21
Variant appearance in text: MSH6: T1085I
PubMed Link:
29245953
Variant Present in the following documents:
oncotarget-08-99966-s003.xlsx, sheet 2
View BVdb publication page