Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.S47_L50del4

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.S47_L50del4
c.139_149del12
Surrounding Variants
1 paper
NM_002386.4
p.L46L
c.138C>A
2 papers
NM_002386.4
p.S47C
c.139A>T
1 paper
NM_002386.4
p.L46F
c.136C>T
1 paper
NM_002386.4
p.L46delFs
c.137delT
2 papers
NM_002386.4
p.S47T
c.140G>C
7 papers
NM_002386.4
p.S47I
c.140G>T
23 papers
NM_002386.4
p.F45L
c.135C>A
23 papers
NM_002386.4
p.F45L
c.135C>G
2 papers
NM_002386.4
p.F45F
c.135C>T
2 papers
NM_002386.4
p.L48M
c.142C>A
1 paper
NM_002386.4
p.L48V
c.142C>G
1 paper
NM_002386.4
p.F45delFs
c.135delC
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