Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V38L

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.V38L
c.112G>T
Surrounding Variants
29 papers
NM_002386.4
p.V38M
c.112G>A
1 paper
NM_002386.4
p.V38L
c.112G>C
1 paper
NM_002386.4
p.S39F
c.116C>T
2 papers
NM_002386.4
p.L36P
c.107T>C
1 paper
NM_002386.4
p.L36delFs
c.108delG
3 papers
NM_002386.4
p.I40V
c.118A>G
1 paper
NM_002386.4
p.I40F
c.118A>T
3 papers
NM_002386.4
p.L36V
c.106C>G
4 papers
NM_002386.4
p.L36L
c.106C>T
1 paper
NM_002386.4
p.C35C
c.105C>T
14 papers
NM_002386.4
p.I40T
c.119T>C
20 papers
NM_002386.4
p.C35Y
c.104G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."