Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.P230L

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
21 papers
NM_002386.4
p.P230L
c.689C>T
Surrounding Variants
1 paper
NM_002386.4
p.P230delFs
c.690delG
1 paper
NM_002386.4
p.P230delFs
c.689_690delCG
4 papers
NM_002386.4
p.P230P
c.690G>A
1 paper
NM_002386.4
p.P230P
c.690G>C
2 papers
NM_002386.4
p.R229R
c.687C>T
3 papers
NM_002386.4
p.R229H
c.686G>A
1 paper
NM_002386.4
p.V231D
c.692T>A
1 paper
NM_002386.4
p.V231A
c.692T>C
1 paper
NM_002386.4
p.H232_Q233del1
c.695_697delACC
1 paper
NM_002386.4
p.R229fs
c.685_686fs
1 paper
NM_002386.4
p.H232_Q233insCTA
c.694_698ins9
2 papers
NM_002386.4
p.Q228Q
c.684G>A
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