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MLH1 c.297T>A ;(p.F99L)
Variant ID: 3-37042535-T-A
NM_000249.3(
MLH1
):c.297T>A;(p.F99L)
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:
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: MLH1: 297T>A; F99L; rs267607730
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page
An integrated DNA and RNA variant detector identifies a highly conserved three base exon in the MAP4K5 kinase locus.
Rna Biology
Kurkowiak, Małgorzata M; Grasso, Giuseppa G; Faktor, Jakub J; Scheiblecker, Lisa L; Winniczuk, Małgorzata M; Mayordomo, Marcos Yebenes MY; O'Neill, J Robert JR; Oster, Bodil B; Vojtesek, Borek B; Al-Saadi, Ali A; Marek-Trzonkowska, Natalia N; Hupp, Ted R TR
Publication Date: 2021-12
Variant appearance in text: MLH1: Phe99Leu
PubMed Link:
34190025
Variant Present in the following documents:
Main text
View BVdb publication page
Modulation of microRNA processing by mismatch repair protein MutLα.
Cell Research
Mao, Guogen G; Lee, Sanghee S; Ortega, Janice J; Gu, Liya L; Li, Guo-Min GM
Publication Date: 2012-06
Variant appearance in text: MLH1: F99L
PubMed Link:
22290424
Variant Present in the following documents:
Main text
View BVdb publication page
Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
Nucleic Acids Research
Ellison, Aaron R AR; Lofing, Joan J; Bitter, Grant A GA
Publication Date: 2004
Variant appearance in text: MLH1: F99L
PubMed Link:
15475387
Variant Present in the following documents:
Main text
View BVdb publication page