MSH6 c.2119G>A ;(p.E707K)

Variant ID: 2-48027241-G-A

NM_000179.2(MSH6):c.2119G>A;(p.E707K)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: E707K
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 2
View BVdb publication page



Endonuclease activities of MutLĪ± and its homologs in DNA mismatch repair.

Dna Repair
Kadyrova, Lyudmila Y LY; Kadyrov, Farid A FA
Publication Date: 2016-02

Variant appearance in text: MSH6: E707K
PubMed Link: 26719141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mlh2 is an accessory factor for DNA mismatch repair in Saccharomyces cerevisiae.

Plos Genetics
Campbell, Christopher S CS; Hombauer, Hans H; Srivatsan, Anjana A; Bowen, Nikki N; Gries, Kerstin K; Desai, Arshad A; Putnam, Christopher D CD; Kolodner, Richard D RD
Publication Date: 2014-05

Variant appearance in text: MSH6: E707K
PubMed Link: 24811092
Variant Present in the following documents:
  • Main text
  • pgen.1004327.pdf
View BVdb publication page



Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway.

Plos Genetics
Smith, Catherine E CE; Mendillo, Marc L ML; Bowen, Nikki N; Hombauer, Hans H; Campbell, Christopher S CS; Desai, Arshad A; Putnam, Christopher D CD; Kolodner, Richard D RD
Publication Date: 2013-10

Variant appearance in text: MSH6: E707K
PubMed Link: 24204293
Variant Present in the following documents:
  • Main text
  • pgen.1003869.pdf
View BVdb publication page



Visualization of eukaryotic DNA mismatch repair reveals distinct recognition and repair intermediates.

Cell
Hombauer, Hans H; Campbell, Christopher S CS; Smith, Catherine E CE; Desai, Arshad A; Kolodner, Richard D RD
Publication Date: 2011-11-23

Variant appearance in text: MSH6: E707K
PubMed Link: 22118461
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair.

The Embo Journal
Kim, Hyun-Min HM; Narayanan, Vidhya V; Mieczkowski, Piotr A PA; Petes, Thomas D TD; Krasilnikova, Maria M MM; Mirkin, Sergei M SM; Lobachev, Kirill S KS
Publication Date: 2008-11-05

Variant appearance in text: MSH6: E707K
PubMed Link: 18833189
Variant Present in the following documents:
  • Main text
View BVdb publication page