Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R34Q

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
4 papers
NM_002386.4
p.R34Q
c.101G>A
Surrounding Variants
1 paper
NM_002386.4
p.R34P
c.101G>C
3 papers
NM_002386.4
p.R34W
c.100C>T
1 paper
NM_002386.4
p.R34R
c.102G>A
3 papers
NM_002386.4
p.R34R
c.102G>C
1 paper
NM_002386.4
p.R34R
c.102G>T
3 papers
NM_002386.4
p.C35G
c.103T>G
1 paper
NM_002386.4
p.A33V
c.98C>T
20 papers
NM_002386.4
p.C35Y
c.104G>A
5 papers
NM_002386.4
p.C35F
c.104G>T
1 paper
NM_002386.4
p.C35C
c.105C>T
1 paper
NM_002386.4
p.A33T
c.97G>A
1 paper
NM_002386.4
p.A33delFs
c.98delC
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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."