Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A103V

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
11 papers
NM_002386.4
p.A103V
c.308C>T
Surrounding Variants
5 papers
NM_002386.4
p.A103A
c.309C>T
11 papers
NM_002386.4
p.G104delFs
c.311delG
2 papers
NM_002386.4
p.A103T
c.307G>A
24 papers
NM_002386.4
p.G104S
c.310G>A
3 papers
NM_002386.4
p.G104fs
c.310_311fs
1 paper
NM_002386.4
p.A103delFs
c.307_308delGC
2 papers
NM_002386.4
p.E102delFs
c.306delG
1 paper
NM_002386.4
p.G104G
c.312T>A
1 paper
NM_002386.4
p.A105T
c.313G>A
1 paper
NM_002386.4
p.A105S
c.313G>T
1 paper
NM_002386.4
p.A105_L106delFs
c.315_316delAC
1 paper
NM_002386.4
p.E102delFs
c.305_306delAG
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."