MSH6 c.3070_3072delinsTGT ;(p.R1024C)

Variant ID: 2-48028192-CGG-TGT

NM_000179.2(MSH6):c.3070_3072delinsTGT;(p.R1024C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Engineered disulfide-forming amino acid substitutions interfere with a conformational change in the mismatch recognition complex Msh2-Msh6 required for mismatch repair.

The Journal Of Biological Chemistry
Hargreaves, Victoria V VV; Putnam, Christopher D CD; Kolodner, Richard D RD
Publication Date: 2012-11-30

Variant appearance in text: MSH6: R1024C
PubMed Link: 23045530
Variant Present in the following documents:
  • Main text
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Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Martinez, Sandra L SL; Kolodner, Richard D RD
Publication Date: 2010-03-16

Variant appearance in text: MSH6: R1024C
PubMed Link: 20176959
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between the Msh2 and Msh6 nucleotide-binding sites in the Saccharomyces cerevisiae Msh2-Msh6 complex.

The Journal Of Biological Chemistry
Hargreaves, Victoria V VV; Shell, Scarlet S SS; Mazur, Dan J DJ; Hess, Martin T MT; Kolodner, Richard D RD
Publication Date: 2010-03-19

Variant appearance in text: MSH6: R1024C
PubMed Link: 20089866
Variant Present in the following documents:
  • Main text
View BVdb publication page