Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.H225Y

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.H225Y
c.673C>T
Surrounding Variants
1 paper
NM_002386.4
p.K226insFs
c.677_678insA
5 papers
NM_002386.4
p.K226E
c.676A>G
1 paper
NM_002386.4
p.K226*
c.676A>T
1 paper
NM_002386.4
p.L224F
c.670C>T
1 paper
NM_002386.4
p.K226insFs
c.678dupG
7 papers
NM_002386.4
p.R223Q
c.668G>A
1 paper
NM_002386.4
p.K226K
c.678G>A
1 paper
NM_002386.4
p.R223P
c.668G>C
1 paper
NM_002386.4
p.K226N
c.678G>C
1 paper
NM_002386.4
p.K226N
c.678G>T
2 papers
NM_002386.4
p.R223G
c.667C>G
16 papers
NM_002386.4
p.R223W
c.667C>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."