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MSH2 c.196_197delinsGC ;(p.Y66A)
Variant ID: 2-47630526-TA-GC
NM_000251.2(
MSH2
):c.196_197delinsGC;(p.Y66A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: Y66A
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
The rad52-Y66A allele alters the choice of donor template during spontaneous chromosomal recombination.
Dna Repair
de Mayolo, Adriana Antúnez AA; Sunjevaric, Ivana I; Reid, Robert R; Mortensen, Uffe H UH; Rothstein, Rodney R; Lisby, Michael M
Publication Date: 2010-01-02
Variant appearance in text: MSH2: Y66A
PubMed Link:
19892607
Variant Present in the following documents:
Main text
View BVdb publication page