Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A28T

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
1 paper
NM_002386.4
p.A28T
c.82G>A
Surrounding Variants
2 papers
NM_002386.4
p.A28fs
c.82_83fs
1 paper
NM_002386.4
p.A28insFs
c.83_84insA
1 paper
NM_002386.4
p.A28V
c.83C>T
1 paper
NM_002386.4
p.A28delFs
c.82delG
51 papers
NM_002386.4
p.N29insFs
c.86_87insA
1 paper
NM_002386.4
p.A27G
c.80C>G
5 papers
NM_002386.4
p.N29fs
c.85_86fs
1 paper
NM_002386.4
p.N29D
c.85A>G
8 papers
NM_002386.4
p.N29fs
c.85_86fs
1 paper
NM_002386.4
p.A27T
c.79G>A
1 paper
NM_002386.4
p.A27insFs
c.79_80insA
1 paper
NM_002386.4
p.N29S
c.86A>G
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."