Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.I288T

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.I288T
c.863T>C
Surrounding Variants
1 paper
NM_002386.4
p.I288delFs
c.864delC
1 paper
NM_002386.4
p.C289del1
c.865_866delTGC
15 papers
NM_002386.4
p.I287M
c.861C>G
12 papers
NM_002386.4
p.C289R
c.865T>C
1 paper
NM_002386.4
p.C289G
c.865T>G
1 paper
NM_002386.4
p.I287N
c.860T>A
4 papers
NM_002386.4
p.I287S
c.860T>G
1 paper
NM_002386.4
p.I287V
c.859A>G
4 papers
NM_002386.4
p.N290S
c.869A>G
3 papers
NM_002386.4
p.L286V
c.856C>G
2 papers
NM_002386.4
p.I288del1
c.862_863delATC
14 papers
NM_002386.4
p.A291T
c.871G>A
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