MLH1 c.130T>C ;(p.S44P)

Variant ID: 3-37038123-T-C

NM_000249.3(MLH1):c.130T>C;(p.S44P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Genome Medicine
Shin, GiWon G; Greer, Stephanie U SU; Hopmans, Erik E; Grimes, Susan M SM; Lee, HoJoon H; Zhao, Lan L; Miotke, Laura L; Suarez, Carlos C; Almeda, Alison F AF; Haraldsdottir, Sigurdis S; Ji, Hanlee P HP
Publication Date: 2021-09-06

Variant appearance in text: MLH1: S44P
PubMed Link: 34488871
Variant Present in the following documents:
  • 13073_2021_958_MOESM2_ESM.xlsx, sheet 15
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: S44P
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: S44P
PubMed Link: 15475387
Variant Present in the following documents:
  • Main text
View BVdb publication page