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MC1R c.787C>T ;(p.L263F)
Variant ID: 16-89986453-C-T
NM_002386.3(
MC1R
):c.787C>T;(p.L263F)
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:
Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.
Plos One
Neitzke-Montinelli, Vanessa V; da Silva Figueiredo Celestino Gomes, Priscila P; Pascutti, Pedro G PG; Moura-Neto, Rodrigo S RS; Silva, Rosane R
Publication Date: 2022
Variant appearance in text: MC1R: Leu263Phe; rs370073863
PubMed Link:
35452484
Variant Present in the following documents:
pone.0267286.s002.xlsx, sheet 1
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs370073863
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.
Plos One
Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR
Publication Date: 2015
Variant appearance in text: MC1R: L263F; rs370073863
PubMed Link:
25794181
Variant Present in the following documents:
View BVdb publication page