Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V122A

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.V122A
c.365T>C
Surrounding Variants
1 paper
NM_002386.4
p.V122insFs
c.366dupG
45 papers
NM_002386.4
p.V122M
c.364G>A
3 papers
NM_002386.4
p.V122V
c.366G>A
3 papers
NM_002386.4
p.V122V
c.366G>C
1 paper
NM_002386.4
p.V122L
c.364G>C
1 paper
NM_002386.4
p.V122delFs
c.365delT
2 papers
NM_002386.4
p.I123_T124insT
c.367_371ins3
10 papers
NM_002386.4
p.D121E
c.363C>A
1 paper
NM_002386.4
p.D121_V122ins3
c.363_364ins9
11 papers
NM_002386.4
p.D121E
c.363C>G
4 papers
NM_002386.4
p.D121A
c.362A>C
33 papers
NM_002386.4
p.D121N
c.361G>A
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