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MLH1 c.210A>C ;(p.K70N)
Variant ID: 3-37042448-A-C
NM_000249.3(
MLH1
):c.210A>C;(p.K70N)
This variant was identified in 3 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: MLH1: K70N
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.
Journal Of Medical Genetics
McVety, S S; Li, L L; Gordon, P H PH; Chong, G G; Foulkes, W D WD
Publication Date: 2006-02
Variant appearance in text:
PubMed Link:
15923275
Variant Present in the following documents:
Main text
View BVdb publication page
Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
Nucleic Acids Research
Ellison, Aaron R AR; Lofing, Joan J; Bitter, Grant A GA
Publication Date: 2004
Variant appearance in text: N/A
PubMed Link:
15475387
Variant Present in the following documents:
View BVdb publication page