Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.E94D

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.E94D
c.282G>C
Surrounding Variants
1 paper
NM_002386.4
p.E94D
c.282G>T
1 paper
NM_002386.4
p.T95_A96del2
c.283_287del6
3 papers
NM_002386.4
p.E94A
c.281A>C
1 paper
NM_002386.4
p.T95K
c.284C>A
55 papers
NM_002386.4
p.T95M
c.284C>T
20 papers
NM_002386.4
p.E94K
c.280G>A
1 paper
NM_002386.4
p.L93L
c.279G>A
1 paper
NM_002386.4
p.T95T
c.285G>A
1 paper
NM_002386.4
p.A96T
c.286G>A
18 papers
NM_002386.4
p.L93R
c.278T>G
4 papers
NM_002386.4
p.E94_T95del0
c.280_285del6
2 papers
NM_002386.4
p.L93M
c.277C>A
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