MSH2 c.1177_1178delinsGC ;(p.K393A)

Variant ID: 2-47656981-AA-GC

NM_000251.2(MSH2):c.1177_1178delinsGC;(p.K393A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: K393A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Systematic mutagenesis of the Saccharomyces cerevisiae MLH1 gene reveals distinct roles for Mlh1p in meiotic crossing over and in vegetative and meiotic mismatch repair.

Molecular And Cellular Biology
Argueso, Juan Lucas JL; Kijas, Amanda Wraith AW; Sarin, Sumeet S; Heck, Julie J; Waase, Marc M; Alani, Eric E
Publication Date: 2003-02

Variant appearance in text: MSH2: K393A
PubMed Link: 12529393
Variant Present in the following documents:
  • Main text
View BVdb publication page