Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.Y152*

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
56 papers
NM_002386.4
p.Y152*
c.456C>A
Surrounding Variants
50 papers
NM_002386.4
p.Y152*
c.456C>G
1 paper
NM_002386.4
p.H153delFs
c.458_459delAC
1 paper
NM_002386.4
p.Y152C
c.455A>G
1 paper
NM_002386.4
p.H153Y
c.457C>T
1 paper
NM_002386.4
p.H153delFs
c.458delA
1 paper
NM_002386.4
p.H153P
c.458A>C
1 paper
NM_002386.4
p.H153R
c.458A>G
1 paper
NM_002386.4
p.Y152N
c.454T>A
1 paper
NM_002386.4
p.Y152H
c.454T>C
10 papers
NM_002386.4
p.R151R
c.453C>G
1 paper
NM_002386.4
p.R151R
c.453C>T
1 paper
NM_002386.4
p.S154R
c.460A>C
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