Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V140L

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.V140L
c.418G>C
Surrounding Variants
3 papers
NM_002386.4
p.V140M
c.418G>A
2 papers
NM_002386.4
p.V140L
c.418G>T
1 paper
NM_002386.4
p.A139A
c.417C>G
1 paper
NM_002386.4
p.A139A
c.417C>T
1 paper
NM_002386.4
p.V140G
c.419T>G
7 papers
NM_002386.4
p.A139V
c.416C>T
3 papers
NM_002386.4
p.A139T
c.415G>A
1 paper
NM_002386.4
p.D141Y
c.421G>T
2 papers
NM_002386.4
p.D141V
c.422A>T
6 papers
NM_002386.4
p.I138I
c.414C>T
1 paper
NM_002386.4
p.D141E
c.423C>A
1 paper
NM_002386.4
p.D141E
c.423C>G
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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."