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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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