Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.M1R

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.M1R
c.2T>G
Surrounding Variants
1 paper
NM_002386.4
p.M1K
c.2T>A
3 papers
NM_002386.4
p.M1T
c.2T>C
1 paper
NM_002386.4
p.M1delFs
c.3delG
1 paper
NM_002386.4
p.M1insFs
c.2_3insT
1 paper
NM_002386.4
p.M1L
c.1A>C
1 paper
NM_002386.4
p.M1V
c.1A>G
1 paper
NM_002386.4
p.M1L
c.1A>T
2 papers
NM_002386.4
p.M1I
c.3G>A
2 papers
NM_002386.4
p.M1I
c.3G>C
2 papers
NM_002386.4
p.M1I
c.3G>T
1 paper
NM_002386.4
p.A2insFs
c.5dupC
2 papers
NM_002386.4
p.A2S
c.4G>T
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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."