MLH1 c.2074T>C ;(p.S692P)

Variant ID: 3-37090479-T-C

NM_000249.3(MLH1):c.2074T>C;(p.S692P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: MLH1: S692P
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



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: 2074T>C; Ser692Pro; rs587779957
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Jama
Casey, Graham G; Lindor, Noralane M NM; Papadopoulos, Nickolas N; Thibodeau, Stephen N SN; Moskow, John J; Steelman, Scott S; Buzin, Carolyn H CH; Sommer, Steve S SS; Collins, Christine E CE; Butz, Malinda M; Aronson, Melyssa M; Gallinger, Steven S; Barker, Melissa A MA; Young, Joanne P JP; Jass, Jeremy R JR; Hopper, John L JL; Diep, Anh A; Bapat, Bharati B; Salem, Michael M; Seminara, Daniela D; Haile, Robert R; ,
Publication Date: 2005-02-16

Variant appearance in text: MLH1: 2074T>C; S692P
PubMed Link: 15713769
Variant Present in the following documents:
  • Main text
View BVdb publication page