MSH2 c.188T>A ;(p.V63E)

Variant ID: 2-47630518-T-A

NM_000251.2(MSH2):c.188T>A;(p.V63E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: MSH2: 188T>A; Val63Glu
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



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: V63E
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Houlleberghs, Hellen H; Dekker, Marleen M; Lantermans, Hildo H; Kleinendorst, Roos R; Dubbink, Hendrikus Jan HJ; Hofstra, Robert M W RM; Verhoef, Senno S; Te Riele, Hein H
Publication Date: 2016-04-12

Variant appearance in text: MSH2: V63E
PubMed Link: 26951660
Variant Present in the following documents:
  • Main text
View BVdb publication page