Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.I288del1

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
2 papers
NM_002386.4
p.I288del1
c.862_863delATC
Surrounding Variants
3 papers
NM_002386.4
p.L286V
c.856C>G
2 papers
NM_002386.4
p.A285G
c.854C>G
2 papers
NM_002386.4
p.A285V
c.854C>T
1 paper
NM_002386.4
p.I287V
c.859A>G
6 papers
NM_002386.4
p.A285T
c.853G>A
1 paper
NM_002386.4
p.L286insFs
c.856dupC
2 papers
NM_002386.4
p.L284L
c.852C>T
1 paper
NM_002386.4
p.I287N
c.860T>A
4 papers
NM_002386.4
p.I287S
c.860T>G
15 papers
NM_002386.4
p.I287M
c.861C>G
1 paper
NM_002386.4
p.L284I
c.850C>A
1 paper
NM_002386.4
p.L284F
c.850C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."