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MLH1 c.848A>G ;(p.Y283C)
Variant ID: 3-37059054-A-G
NM_000249.3(
MLH1
):c.848A>G;(p.Y283C)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: Y283C
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: HNPCC2: Y283C
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08
Variant appearance in text: MLH1: 848A>G; Tyr283Cys; rs201931669
PubMed Link:
33840814
Variant Present in the following documents:
41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08
Variant appearance in text: MLH1: 848A>G; Tyr283Cys; rs201931669
PubMed Link:
33840814
Variant Present in the following documents:
41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Toward automation of germline variant curation in clinical cancer genetics.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09
Variant appearance in text: MLH1: 848A>G; Tyr283Cys
PubMed Link:
30787465
Variant Present in the following documents:
NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page