Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.G25E

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.G25E
c.74G>A
Surrounding Variants
1 paper
NM_002386.4
p.G25G
c.75G>A
1 paper
NM_002386.4
p.L26M
c.76C>A
3 papers
NM_002386.4
p.L26V
c.76C>G
1 paper
NM_002386.4
p.L24L
c.72G>C
1 paper
NM_002386.4
p.L26Q
c.77T>A
1 paper
NM_002386.4
p.L26P
c.77T>C
1 paper
NM_002386.4
p.G25insFs
c.74_75insG
1 paper
NM_002386.4
p.G25delFs
c.75delG
1 paper
NM_002386.4
p.L24_G25delFs
c.72_73delGG
1 paper
NM_002386.4
p.A27T
c.79G>A
1 paper
NM_002386.4
p.Q23H
c.69G>C
1 paper
NM_002386.4
p.A27insFs
c.79_80insA
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