Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.I40V

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
3 papers
NM_002386.4
p.I40V
c.118A>G
Surrounding Variants
1 paper
NM_002386.4
p.I40F
c.118A>T
14 papers
NM_002386.4
p.I40T
c.119T>C
1 paper
NM_002386.4
p.S39F
c.116C>T
7 papers
NM_002386.4
p.S41_D42insFs
c.123_124insT
7 papers
NM_002386.4
p.S41C
c.122C>G
12 papers
NM_002386.4
p.S41F
c.122C>T
29 papers
NM_002386.4
p.V38M
c.112G>A
2 papers
NM_002386.4
p.D42N
c.124G>A
1 paper
NM_002386.4
p.V38L
c.112G>C
1 paper
NM_002386.4
p.D42H
c.124G>C
1 paper
NM_002386.4
p.D42fs
c.124_125fs
2 papers
NM_002386.4
p.D42insFs
c.124_125insT
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