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.




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