Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A137delFs

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.A137delFs
c.411delC
Surrounding Variants
5 papers
NM_002386.4
p.A137T
c.409G>A
2 papers
NM_002386.4
p.A137P
c.409G>C
2 papers
NM_002386.4
p.G136G
c.408C>G
1 paper
NM_002386.4
p.G136G
c.408C>T
1 paper
NM_002386.4
p.G136delFs
c.408delC
6 papers
NM_002386.4
p.I138I
c.414C>T
1 paper
NM_002386.4
p.G136insFs
c.407dupG
3 papers
NM_002386.4
p.A139T
c.415G>A
7 papers
NM_002386.4
p.A139V
c.416C>T
1 paper
NM_002386.4
p.L135del1
c.403_404delCTG
1 paper
NM_002386.4
p.A139A
c.417C>G
1 paper
NM_002386.4
p.A139A
c.417C>T
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."