Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.P18A

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
11 papers
NM_002386.4
p.P18A
c.52C>G
Surrounding Variants
1 paper
NM_002386.4
p.T17_P18insFs
c.51_52insC
1 paper
NM_002386.4
p.T17delFs
c.50delC
1 paper
NM_002386.4
p.T19fs
c.55_56fs
1 paper
NM_002386.4
p.P18_A20del3
c.52_59del9
1 paper
NM_002386.4
p.S16_T17insFs
c.48_49insG
7 papers
NM_002386.4
p.T19I
c.56C>T
1 paper
NM_002386.4
p.T19delFs
c.57delA
1 paper
NM_002386.4
p.T19T
c.57A>C
1 paper
NM_002386.4
p.T19T
c.57A>G
1 paper
NM_002386.4
p.S16C
c.47C>G
1 paper
NM_002386.4
p.A20_I21insFs
c.60_61insCC
1 paper
NM_002386.4
p.S16_T17delFs
c.47_50del4
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