Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A291T

MC1R

1,094 papers

RefSeq Summary

This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two type...

Pfam Domains

7tm_1aa 55–188UCSC7 transmembrane receptor (rhodopsin family)
7tm_1aa 181–298UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 1 receptor

HGNC Alias Symbol

MSH-R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_002386.4
p.A291T
c.871G>A
Surrounding Variants
2 papers
NM_002386.4
p.A291V
c.872C>T
1 paper
NM_002386.4
p.I292_D294del3
c.874_881del9
4 papers
NM_002386.4
p.N290S
c.869A>G
1 paper
NM_002386.4
p.A291A
c.873C>T
1 paper
NM_002386.4
p.I292V
c.874A>G
2 papers
NM_002386.4
p.I292F
c.874A>T
1 paper
NM_002386.4
p.I292T
c.875T>C
1 paper
NM_002386.4
p.I292I
c.876C>T
12 papers
NM_002386.4
p.C289R
c.865T>C
1 paper
NM_002386.4
p.C289G
c.865T>G
1 paper
NM_002386.4
p.I293I
c.879C>T
1 paper
NM_002386.4
p.I288T
c.863T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."