Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.Y183*

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.Y183*
c.549C>G
Surrounding Variants
1 paper
NM_002386.4
p.Y183*
c.549C>A
2 papers
NM_002386.4
p.Y183Y
c.549C>T
1 paper
NM_002386.4
p.Y183insFs
c.548_549insTT
1 paper
NM_002386.4
p.Y183delFs
c.549delC
9 papers
NM_002386.4
p.D184N
c.550G>A
9 papers
NM_002386.4
p.D184H
c.550G>C
1 paper
NM_002386.4
p.D184delFs
c.551delA
2 papers
NM_002386.4
p.D184G
c.551A>G
1 paper
NM_002386.4
p.D184delFs
c.552delC
3 papers
NM_002386.4
p.Y183D
c.547T>G
6 papers
NM_002386.4
p.Y182Y
c.546C>T
1 paper
NM_002386.4
p.D184D
c.552C>T
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