Bibliome.ai browser hg19
Search
About
Stats
FAQ
MC1R c.631C>G ;(p.L211V)
Variant ID: 16-89986297-C-G
NM_002386.3(
MC1R
):c.631C>G;(p.L211V)
This variant was identified in 2 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: Leu211Val; rs188462456
PubMed Link:
35452484
Variant Present in the following documents:
pone.0267286.s002.xlsx, sheet 1
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: L211V; rs188462456
PubMed Link:
25794181
Variant Present in the following documents:
View BVdb publication page