Bibliome.ai browser hg19
Search
About
Stats
FAQ
MC1R c.803C>G ;(p.P268R)
Variant ID: 16-89986469-C-G
NM_002386.3(
MC1R
):c.803C>G;(p.P268R)
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: Pro268Arg; rs527697723
PubMed Link:
35452484
Variant Present in the following documents:
pone.0267286.s002.xlsx, sheet 1
View BVdb publication page
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12
Variant appearance in text: rs527697723
PubMed Link:
34326492
Variant Present in the following documents:
NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12
Variant appearance in text: rs527697723
PubMed Link:
34326492
Variant Present in the following documents:
NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page