Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.F277S

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.F277S
c.830T>C
Surrounding Variants
1 paper
NM_002386.4
p.K278_N279del2
c.832_836del6
34 papers
NM_002386.4
p.K278E
c.832A>G
2 papers
NM_002386.4
p.I276I
c.828C>T
1 paper
NM_002386.4
p.K278T
c.833A>C
1 paper
NM_002386.4
p.K278_L282delFs
c.834_844del11
1 paper
NM_002386.4
p.I276V
c.826A>G
1 paper
NM_002386.4
p.I276F
c.826A>T
1 paper
NM_002386.4
p.K278K
c.834G>A
5 papers
NM_002386.4
p.N279D
c.835A>G
15 papers
NM_002386.4
p.N279S
c.836A>G
1 paper
NM_002386.4
p.C275F
c.824G>T
1 paper
NM_002386.4
p.I276_F277del2
c.826_830del6
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."