Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.G220G

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.G220G
c.660C>A
Surrounding Variants
1 paper
NM_002386.4
p.G220G
c.660C>T
1 paper
NM_002386.4
p.I221fs
c.661_662fs
1 paper
NM_002386.4
p.G220ins6
c.659_660ins18
5 papers
NM_002386.4
p.I221T
c.662T>C
1 paper
NM_002386.4
p.A222delFs
c.664_665delGC
3 papers
NM_002386.4
p.I221I
c.663C>T
1 paper
NM_002386.4
p.Q219P
c.656A>C
1 paper
NM_002386.4
p.Q219_G220delFs
c.657_658delGG
4 papers
NM_002386.4
p.A222T
c.664G>A
1 paper
NM_002386.4
p.A222S
c.664G>T
2 papers
NM_002386.4
p.A222D
c.665C>A
1 paper
NM_002386.4
p.A222V
c.665C>T
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."