Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.W169*

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.W169*
c.506G>A
Surrounding Variants
2 papers
NM_002386.4
p.W169*
c.507G>A
1 paper
NM_002386.4
p.V170_A171del2
c.508_512del6
4 papers
NM_002386.4
p.I168M
c.504C>G
6 papers
NM_002386.4
p.I168I
c.504C>T
1 paper
NM_002386.4
p.V170M
c.508G>A
1 paper
NM_002386.4
p.I168T
c.503T>C
1 paper
NM_002386.4
p.W169_A171del3
c.505_512del9
2 papers
NM_002386.4
p.A171T
c.511G>A
12 papers
NM_002386.4
p.A171D
c.512C>A
5 papers
NM_002386.4
p.A167G
c.500C>G
3 papers
NM_002386.4
p.A171G
c.512C>G
2 papers
NM_002386.4
p.S172C
c.514A>T
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