Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.C275R

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
2 papers
NM_002386.4
p.C275R
c.823T>C
Surrounding Variants
1 paper
NM_002386.4
p.C275G
c.823T>G
1 paper
NM_002386.4
p.C275delFs
c.824delG
1 paper
NM_002386.4
p.C275fs
c.823_824fs
1 paper
NM_002386.4
p.C275delFs
c.823delT
1 paper
NM_002386.4
p.C275F
c.824G>T
1 paper
NM_002386.4
p.I276_F277del2
c.826_830del6
12 papers
NM_002386.4
p.G274A
c.821G>C
1 paper
NM_002386.4
p.I276V
c.826A>G
1 paper
NM_002386.4
p.I276F
c.826A>T
3 papers
NM_002386.4
p.G274S
c.820G>A
1 paper
NM_002386.4
p.C273W
c.819C>G
6 papers
NM_002386.4
p.C273C
c.819C>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."