Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.Q228*

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.Q228*
c.682C>T
Surrounding Variants
1 paper
NM_002386.4
p.Q228R
c.683A>G
1 paper
NM_002386.4
p.R227R
c.681G>A
2 papers
NM_002386.4
p.Q228Q
c.684G>A
1 paper
NM_002386.4
p.R227K
c.680G>A
1 paper
NM_002386.4
p.R229fs
c.685_686fs
3 papers
NM_002386.4
p.R229H
c.686G>A
1 paper
NM_002386.4
p.K226K
c.678G>A
1 paper
NM_002386.4
p.K226N
c.678G>C
1 paper
NM_002386.4
p.K226N
c.678G>T
1 paper
NM_002386.4
p.K226insFs
c.678dupG
2 papers
NM_002386.4
p.R229R
c.687C>T
5 papers
NM_002386.4
p.K226E
c.676A>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."