MLH1 c.553G>T ;(p.V185L)

Variant ID: 3-37053318-G-T

NM_000249.3(MLH1):c.553G>T;(p.V185L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HNPCC2: V185L
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MLH1: V185L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

American Journal Of Human Genetics
Wagner, Anja A; Barrows, Alicia A; Wijnen, Juul Th JT; van der Klift, Heleen H; Franken, Patrick F PF; Verkuijlen, Paul P; Nakagawa, Hidewaki H; Geugien, Marjan M; Jaghmohan-Changur, Shantie S; Breukel, Cor C; Meijers-Heijboer, Hanne H; Morreau, Hans H; van Puijenbroek, Marjo M; Burn, John J; Coronel, Stephany S; Kinarski, Yulia Y; Okimoto, Ross R; Watson, Patrice P; Lynch, Jane F JF; de la Chapelle, Albert A; Lynch, Henry T HT; Fodde, Riccardo R
Publication Date: 2003-05

Variant appearance in text: MLH1: V185L
PubMed Link: 12658575
Variant Present in the following documents:
  • Main text
View BVdb publication page