Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D42E

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.D42E
c.126C>A
Surrounding Variants
1 paper
NM_002386.4
p.G43insFs
c.129dupG
1 paper
NM_002386.4
p.D42E
c.126C>G
3 papers
NM_002386.4
p.D42D
c.126C>T
1 paper
NM_002386.4
p.G43delFs
c.128delG
1 paper
NM_002386.4
p.D42V
c.125A>T
2 papers
NM_002386.4
p.G43R
c.127G>A
3 papers
NM_002386.4
p.G43R
c.127G>C
2 papers
NM_002386.4
p.D42N
c.124G>A
1 paper
NM_002386.4
p.G43E
c.128G>A
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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