Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.W317R

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
2 papers
NM_002386.4
p.W317R
c.949T>A
Surrounding Variants
2 papers
NM_002386.4
p.W317R
c.949T>C
1 paper
NM_002386.4
p.W317insFs
c.951dupG
13 papers
NM_002386.4
p.S316S
c.948C>T
1 paper
NM_002386.4
p.W317*
c.950G>A
1 paper
NM_002386.4
p.W317S
c.950G>C
1 paper
NM_002386.4
p.W317*
c.951G>A
3 papers
NM_002386.4
p.W317C
c.951G>C
3 papers
NM_002386.4
p.W317C
c.951G>T
7 papers
NM_002386.4
p.S316A
c.946T>G
7 papers
NM_002386.4
p.C315S
c.944G>C
1 paper
NM_002386.4
p.C315F
c.944G>T
7 papers
NM_002386.4
p.C315S
c.943T>A
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