Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.T314A

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.T314A
c.940A>G
Surrounding Variants
1 paper
NM_002386.4
p.T314I
c.941C>T
38 papers
NM_002386.4
p.T314T
c.942A>G
1 paper
NM_002386.4
p.C315_S316del2
c.943_947del6
7 papers
NM_002386.4
p.C315S
c.943T>A
8 papers
NM_002386.4
p.C315R
c.943T>C
5 papers
NM_002386.4
p.C315G
c.943T>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.S316A
c.946T>G
3 papers
NM_002386.4
p.E311E
c.933G>A
13 papers
NM_002386.4
p.S316S
c.948C>T
1 paper
NM_002386.4
p.E311K
c.931G>A
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