MSH6 c.7C>T ;(p.R3*)

Variant ID: 2-48010379-C-T

NM_000179.2(MSH6):c.7C>T;(p.R3*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.

Biorxiv : The Preprint Server For Biology
Liu, Mei Hong MH; Costa, Benjamin B; Choi, Una U; Bandler, Rachel C RC; Lassen, Emilie E; Grońska-Pęski, Marta M; Schwing, Adam A; Murphy, Zachary R ZR; Rosenkjær, Daniel D; Picciotto, Shany S; Bianchi, Vanessa V; Stengs, Lucie L; Edwards, Melissa M; Loh, Caitlin A CA; Truong, Tina K TK; Brand, Randall E RE; Pastinen, Tomi T; Wagner, J Richard JR; Skytte, Anne-Bine AB; Tabori, Uri U; Shoag, Jonathan E JE; Evrony, Gilad D GD
Publication Date: 2023-02-19

Variant appearance in text: MSH6: R3*
PubMed Link: 36824744
Variant Present in the following documents:
  • media-1.pdf
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: R3X
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 2
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: MSH6: R3*
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



DNA repair genes are selectively mutated in diffuse large B cell lymphomas.

The Journal Of Experimental Medicine
de Miranda, Noel F C C NF; Peng, Roujun R; Georgiou, Konstantinos K; Wu, Chenglin C; Falk Sörqvist, Elin E; Berglund, Mattias M; Chen, Longyun L; Gao, Zhibo Z; Lagerstedt, Kristina K; Lisboa, Susana S; Roos, Fredrik F; van Wezel, Tom T; Teixeira, Manuel R MR; Rosenquist, Richard R; Sundström, Christer C; Enblad, Gunilla G; Nilsson, Mats M; Zeng, Yixin Y; Kipling, David D; Pan-Hammarström, Qiang Q
Publication Date: 2013-08-26

Variant appearance in text: MSH6: 7C>T
PubMed Link: 23960188
Variant Present in the following documents:
  • Main text
View BVdb publication page