Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.C133C

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
8 papers
NM_002386.4
p.C133C
c.399C>T
Surrounding Variants
1 paper
NM_002386.4
p.C133W
c.399C>G
2 papers
NM_002386.4
p.C133Y
c.398G>A
1 paper
NM_002386.4
p.C133S
c.398G>C
3 papers
NM_002386.4
p.F134S
c.401T>C
1 paper
NM_002386.4
p.C133R
c.397T>C
1 paper
NM_002386.4
p.L135del1
c.403_404delCTG
1 paper
NM_002386.4
p.G136insFs
c.407dupG
1 paper
NM_002386.4
p.S131S
c.393C>T
6 papers
NM_002386.4
p.S131N
c.392G>A
1 paper
NM_002386.4
p.G136delFs
c.408delC
2 papers
NM_002386.4
p.G136G
c.408C>G
1 paper
NM_002386.4
p.G136G
c.408C>T
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