MSH6 c.1154G>A ;(p.R385K)

Variant ID: 2-48026276-G-A

NM_000179.2(MSH6):c.1154G>A;(p.R385K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: MSH6: 1154G>A; R385H
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength.

Frontiers In Oncology
Fanale, Daniele D; Corsini, Lidia Rita LR; Brando, Chiara C; Dimino, Alessandra A; Filorizzo, Clarissa C; Magrin, Luigi L; Sciacchitano, Roberta R; Fiorino, Alessia A; Bazan Russo, Tancredi Didier TD; Calò, Valentina V; Iovanna, Juan Lucio JL; Francini, Edoardo E; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2022

Variant appearance in text: MSH6: 1154G>A; Arg385His
PubMed Link: 35223509
Variant Present in the following documents:
  • fonc-12-827822.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: R385K
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 2
View BVdb publication page



Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

Dna Repair
Vasovcak, P P; Krepelova, A A; Menigatti, M M; Puchmajerova, A A; Skapa, P P; Augustinakova, A A; Amann, G G; Wernstedt, A A; Jiricny, J J; Marra, G G; Wimmer, K K
Publication Date: 2012-07-01

Variant appearance in text: MSH6: 1154G>A; R385H
PubMed Link: 22608206
Variant Present in the following documents:
  • Main text
View BVdb publication page