Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R160W

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
482 papers
NM_002386.4
p.R160W
c.478C>T
Surrounding Variants
4 papers
NM_002386.4
p.R160R
c.478C>A
1 paper
NM_002386.4
p.A161insFs
c.481_482insG
13 papers
NM_002386.4
p.R160Q
c.479G>A
1 paper
NM_002386.4
p.P159P
c.477G>C
1 paper
NM_002386.4
p.R160P
c.479G>C
4 papers
NM_002386.4
p.P159Q
c.476C>A
1 paper
NM_002386.4
p.P159R
c.476C>G
4 papers
NM_002386.4
p.P159L
c.476C>T
1 paper
NM_002386.4
p.A161_R163del3
c.481_488del9
4 papers
NM_002386.4
p.P159T
c.475C>A
2 papers
NM_002386.4
p.P159S
c.475C>T
1 paper
NM_002386.4
p.A161P
c.481G>C
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