MSH6 c.3419A>G ;(p.K1140R)

Variant ID: 2-48030805-A-G

NM_000179.2(MSH6):c.3419A>G;(p.K1140R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Anti-recombination function of MutSα restricts telomere extension by ALT-associated homology-directed repair.

Cell Reports
Barroso-González, Jonathan J; García-Expósito, Laura L; Galaviz, Pablo P; Lynskey, Michelle Lee ML; Allen, Joshua A M JAM; Hoang, SongMy S; Watkins, Simon C SC; Pickett, Hilda A HA; O'Sullivan, Roderick J RJ
Publication Date: 2021-12-07

Variant appearance in text: MSH6: K1140R
PubMed Link: 34879271
Variant Present in the following documents:
  • Main text
  • nihms-1762888.pdf
View BVdb publication page



Anti-recombination function of MutSα restricts telomere extension by ALT-associated homology-directed repair.

Cell Reports
Barroso-González, Jonathan J; García-Expósito, Laura L; Galaviz, Pablo P; Lynskey, Michelle Lee ML; Allen, Joshua A M JAM; Hoang, SongMy S; Watkins, Simon C SC; Pickett, Hilda A HA; O'Sullivan, Roderick J RJ
Publication Date: 2021-12-07

Variant appearance in text: MSH6: K1140R
PubMed Link: 34879271
Variant Present in the following documents:
  • Main text
  • nihms-1762888.pdf
View BVdb publication page



Structural, molecular and cellular functions of MSH2 and MSH6 during DNA mismatch repair, damage signaling and other noncanonical activities.

Mutation Research
Edelbrock, Michael A MA; Kaliyaperumal, Saravanan S; Williams, Kandace J KJ
Publication Date: 2013

Variant appearance in text: MSH6: K1140R
PubMed Link: 23391514
Variant Present in the following documents:
  • Main text
View BVdb publication page