MLH1 c.1455T>G ;(p.D485E)

Variant ID: 3-37070320-T-G

NM_000249.3(MLH1):c.1455T>G;(p.D485E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Linker domain function predicts pathogenic MLH1 missense variants.

Proceedings Of The National Academy Of Sciences Of The United States Of America
London, James J; Martín-López, Juana J; Yang, Inho I; Liu, Jiaquan J; Lee, Jong-Bong JB; Fishel, Richard R
Publication Date: 2021-03-02

Variant appearance in text: MLH1: D485E
PubMed Link: 33619096
Variant Present in the following documents:
  • pnas.2019215118.sapp.pdf
View BVdb publication page



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: D485E
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: D485E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page