MSH6 c.205G>A ;(p.A69T)

Variant ID: 2-48010577-G-A

NM_000179.2(MSH6):c.205G>A;(p.A69T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 205G>A; Ala69Thr
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mismatch repair-deficient prostate cancer with parenchymal brain metastases treated with immune checkpoint blockade.

Cold Spring Harbor Molecular Case Studies
Sena, Laura A LA; Salles, Daniela C DC; Engle, Elizabeth L EL; Zhu, Qingfeng Q; Tukachinsky, Hanna H; Lotan, Tamara L TL; Antonarakis, Emmanuel S ES
Publication Date: 2021-08

Variant appearance in text: MSH6: 205G>A
PubMed Link: 34140335
Variant Present in the following documents:
  • Main text
View BVdb publication page