Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.S302R

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
3 papers
NM_002386.4
p.S302R
c.906C>G
Surrounding Variants
1 paper
NM_002386.4
p.S302R
c.906C>A
1 paper
NM_002386.4
p.Q303K
c.907C>A
1 paper
NM_002386.4
p.S302N
c.905G>A
1 paper
NM_002386.4
p.S302R
c.904A>C
2 papers
NM_002386.4
p.Q303R
c.908A>G
1 paper
NM_002386.4
p.E304G
c.911A>G
1 paper
NM_002386.4
p.E304V
c.911A>T
11 papers
NM_002386.4
p.H301Y
c.901C>T
1 paper
NM_002386.4
p.F300L
c.900C>A
1 paper
NM_002386.4
p.F300L
c.900C>G
7 papers
NM_002386.4
p.F300F
c.900C>T
1 paper
NM_002386.4
p.L305_R306del2
c.913_917del6
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."