Bibliome.ai browser hg19
Search
About
Stats
FAQ
MLH1 c.161G>A ;(p.G54E)
Variant ID: 3-37038154-G-A
NM_000249.3(
MLH1
):c.161G>A;(p.G54E)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: HNPCC2: G54E; rs63751267
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Elife
Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R
Publication Date: 2019-11-07
Variant appearance in text: MLH1: G54E
PubMed Link:
31697235
Variant Present in the following documents:
Main text
elife-49138.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: G54E
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: G54E
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
Predicting the functional impact of protein mutations: application to cancer genomics.
Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01
Variant appearance in text: MLH1: G54E
PubMed Link:
21727090
Variant Present in the following documents:
supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page