Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D141V

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.D141V
c.422A>T
Surrounding Variants
1 paper
NM_002386.4
p.D141E
c.423C>A
1 paper
NM_002386.4
p.D141E
c.423C>G
1 paper
NM_002386.4
p.D141D
c.423C>T
1 paper
NM_002386.4
p.D141Y
c.421G>T
4 papers
NM_002386.4
p.R142S
c.424C>A
1 paper
NM_002386.4
p.R142G
c.424C>G
19 papers
NM_002386.4
p.R142C
c.424C>T
275 papers
NM_002386.4
p.R142H
c.425G>A
2 papers
NM_002386.4
p.R142P
c.425G>C
1 paper
NM_002386.4
p.V140G
c.419T>G
1 paper
NM_002386.4
p.R142R
c.426C>A
3 papers
NM_002386.4
p.V140M
c.418G>A
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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."