Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.P22L

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
1 paper
NM_002386.4
p.P22L
c.65C>T
Surrounding Variants
2 papers
NM_002386.4
p.P22P
c.66C>T
1 paper
NM_002386.4
p.I21M
c.63C>G
9 papers
NM_002386.4
p.Q23*
c.67C>T
2 papers
NM_002386.4
p.Q23insFs
c.67_68insCC
1 paper
NM_002386.4
p.P22delFs
c.64delC
1 paper
NM_002386.4
p.I21V
c.61A>G
1 paper
NM_002386.4
p.Q23H
c.69G>C
1 paper
NM_002386.4
p.Q23H
c.69G>T
1 paper
NM_002386.4
p.A20G
c.59C>G
1 paper
NM_002386.4
p.G25insFs
c.74_75insG
1 paper
NM_002386.4
p.G25delFs
c.75delG
1 paper
NM_002386.4
p.L24_G25delFs
c.72_73delGG
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