Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.F280S

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.F280S
c.839T>C
Surrounding Variants
5 papers
NM_002386.4
p.F280C
c.839T>G
2 papers
NM_002386.4
p.F280L
c.840C>A
2 papers
NM_002386.4
p.F280L
c.840C>G
2 papers
NM_002386.4
p.F280L
c.838T>C
18 papers
NM_002386.4
p.N279K
c.837C>A
18 papers
NM_002386.4
p.N279K
c.837C>G
2 papers
NM_002386.4
p.N281T
c.842A>C
15 papers
NM_002386.4
p.N279S
c.836A>G
13 papers
NM_002386.4
p.N281S
c.842A>G
5 papers
NM_002386.4
p.N279D
c.835A>G
2 papers
NM_002386.4
p.L282I
c.844C>A
1 paper
NM_002386.4
p.L282V
c.844C>G
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."