Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A187A

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.A187A
c.561C>T
Surrounding Variants
1 paper
NM_002386.4
p.A187V
c.560C>T
4 papers
NM_002386.4
p.V188I
c.562G>A
1 paper
NM_002386.4
p.V186E
c.557T>A
1 paper
NM_002386.4
p.V186A
c.557T>C
1 paper
NM_002386.4
p.A187delFs
c.559delG
4 papers
NM_002386.4
p.V186M
c.556G>A
1 paper
NM_002386.4
p.V186delFs
c.557delT
1 paper
NM_002386.4
p.L189Q
c.566T>A
4 papers
NM_002386.4
p.H185H
c.555C>T
1 paper
NM_002386.4
p.H185Y
c.553C>T
1 paper
NM_002386.4
p.D184D
c.552C>T
2 papers
NM_002386.4
p.D184G
c.551A>G
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