Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V205L

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
1 paper
NM_002386.4
p.V205L
c.613G>C
Surrounding Variants
4 papers
NM_002386.4
p.V205M
c.613G>A
1 paper
NM_002386.4
p.V205L
c.613G>T
1 paper
NM_002386.4
p.V205V
c.615G>A
2 papers
NM_002386.4
p.L206L
c.616C>T
2 papers
NM_002386.4
p.L206P
c.617T>C
3 papers
NM_002386.4
p.L206L
c.618G>A
4 papers
NM_002386.4
p.L206L
c.618G>C
1 paper
NM_002386.4
p.M203T
c.608T>C
1 paper
NM_002386.4
p.M203delFs
c.609delG
1 paper
NM_002386.4
p.M203L
c.607A>C
1 paper
NM_002386.4
p.M203L
c.607A>T
1 paper
NM_002386.4
p.M203delFs
c.607delA
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