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MLH1 c.130_131delinsCT ;(p.S44L)
Variant ID: 3-37038123-TC-CT
NM_000249.3(
MLH1
):c.130_131delinsCT;(p.S44L)
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: HNPCC2: S44L
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page
Role of mismatch repair proteins in the processing of cisplatin interstrand cross-links.
Dna Repair
Sawant, Akshada A; Kothandapani, Anbarasi A; Zhitkovich, Anatoly A; Sobol, Robert W RW; Patrick, Steve M SM
Publication Date: 2015-11
Variant appearance in text: MLH1: S44L
PubMed Link:
26519826
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: MLH1: S44L
PubMed Link:
15475387
Variant Present in the following documents:
Main text
View BVdb publication page