MSH6 c.845dup ;(p.D284Gfs*2)

Variant ID: 2-48025966-G-GT

NM_000179.2(MSH6):c.845dup;(p.D284Gfs*2)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: rs1553412283
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: 845dupT; Asp284Glyfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.

The Journal Of Molecular Diagnostics : Jmd
Nowak, Jonathan A JA; Yurgelun, Matthew B MB; Bruce, Jacqueline L JL; Rojas-Rudilla, Vanesa V; Hall, Dimity L DL; Shivdasani, Priyanka P; Garcia, Elizabeth P EP; Agoston, Agoston T AT; Srivastava, Amitabh A; Ogino, Shuji S; Kuo, Frank C FC; Lindeman, Neal I NI; Dong, Fei F
Publication Date: 2017-01

Variant appearance in text: MSH6: 845dupT
PubMed Link: 27863258
Variant Present in the following documents:
  • Main text
View BVdb publication page