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MSH6 c.2263G>A ;(p.E755K)
Variant ID: 2-48027385-G-A
NM_000179.2(
MSH6
):c.2263G>A;(p.E755K)
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:
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: MSH6: 2263G>A; E755K
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page
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: E755K
PubMed Link:
29245953
Variant Present in the following documents:
oncotarget-08-99966-s003.xlsx, sheet 2
View BVdb publication page