Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A218G

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.A218G
c.653C>G
Surrounding Variants
2 papers
NM_002386.4
p.A218V
c.653C>T
1 paper
NM_002386.4
p.Q219del1
c.655_656delCAG
21 papers
NM_002386.4
p.A218T
c.652G>A
1 paper
NM_002386.4
p.A218insFs
c.654dupC
1 paper
NM_002386.4
p.H217H
c.651C>T
1 paper
NM_002386.4
p.Q219P
c.656A>C
1 paper
NM_002386.4
p.Q219_G220delFs
c.657_658delGG
3 papers
NM_002386.4
p.H217Y
c.649C>T
1 paper
NM_002386.4
p.G220ins6
c.659_660ins18
1 paper
NM_002386.4
p.G220G
c.660C>A
1 paper
NM_002386.4
p.G220G
c.660C>T
1 paper
NM_002386.4
p.I221fs
c.661_662fs
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