Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V87L

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.V87L
c.259G>T
Surrounding Variants
1 paper
NM_002386.4
p.V87M
c.259G>A
1 paper
NM_002386.4
p.V87A
c.260T>C
1 paper
NM_002386.4
p.S88insFs
c.263dupG
20 papers
NM_002386.4
p.L86_V87insA
c.256_260ins3
2 papers
NM_002386.4
p.S88N
c.263G>A
1 paper
NM_002386.4
p.L85delFs
c.254delT
22 papers
NM_002386.4
p.G89R
c.265G>A
21 papers
NM_002386.4
p.G89R
c.265G>C
294 papers
NM_002386.4
p.D84E
c.252C>A
294 papers
NM_002386.4
p.D84E
c.252C>G
2 papers
NM_002386.4
p.G89V
c.266G>T
1 paper
NM_002386.4
p.D84A
c.251A>C
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