Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V156L

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
12 papers
NM_002386.4
p.V156L
c.466G>T
Surrounding Variants
3 papers
NM_002386.4
p.V156M
c.466G>A
12 papers
NM_002386.4
p.V156L
c.466G>C
2 papers
NM_002386.4
p.I155M
c.465C>G
1 paper
NM_002386.4
p.I155I
c.465C>T
1 paper
NM_002386.4
p.V156del1
c.466_467delGTG
1 paper
NM_002386.4
p.V156E
c.467T>A
15 papers
NM_002386.4
p.V156A
c.467T>C
208 papers
NM_002386.4
p.I155T
c.464T>C
1 paper
NM_002386.4
p.I155S
c.464T>G
5 papers
NM_002386.4
p.T157A
c.469A>G
1 paper
NM_002386.4
p.S154R
c.462C>A
1 paper
NM_002386.4
p.T157N
c.470C>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."