Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.C75_A81delFs

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
3 papers
NM_002386.4
p.C75_A81delFs
c.225_243del19
Surrounding Variants
2 papers
NM_002386.4
p.Y74*
c.222C>A
2 papers
NM_002386.4
p.Y74*
c.222C>G
1 paper
NM_002386.4
p.C75_F76delFs
c.224_227del4
1 paper
NM_002386.4
p.F76L
c.226T>C
2 papers
NM_002386.4
p.Y74C
c.221A>G
1 paper
NM_002386.4
p.C75del1
c.223_224delTGC
10 papers
NM_002386.4
p.F76Y
c.227T>A
1 paper
NM_002386.4
p.F76L
c.228C>A
1 paper
NM_002386.4
p.F76L
c.228C>G
1 paper
NM_002386.4
p.Y74H
c.220T>C
1 paper
NM_002386.4
p.I77V
c.229A>G
1 paper
NM_002386.4
p.I77F
c.229A>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."