Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D294E

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
4 papers
NM_002386.4
p.D294E
c.882C>G
Surrounding Variants
4 papers
NM_002386.4
p.D294E
c.882C>A
1 paper
NM_002386.4
p.D294D
c.882C>T
1 paper
NM_002386.4
p.D294A
c.881A>C
1 paper
NM_002386.4
p.P295S
c.883C>T
7 papers
NM_002386.4
p.D294N
c.880G>A
442 papers
NM_002386.4
p.D294H
c.880G>C
1 paper
NM_002386.4
p.D294Y
c.880G>T
1 paper
NM_002386.4
p.I293I
c.879C>T
3 papers
NM_002386.4
p.L296F
c.886C>T
1 paper
NM_002386.4
p.I297_A299del3
c.889_896del9
1 paper
NM_002386.4
p.I292I
c.876C>T
1 paper
NM_002386.4
p.I297V
c.889A>G
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