Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A108delFs

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.A108delFs
c.322delG
Surrounding Variants
1 paper
NM_002386.4
p.V107A
c.320T>C
2 papers
NM_002386.4
p.V107M
c.319G>A
1 paper
NM_002386.4
p.V107V
c.321G>A
6 papers
NM_002386.4
p.L106L
c.318G>A
4 papers
NM_002386.4
p.A108T
c.322G>A
1 paper
NM_002386.4
p.A108P
c.322G>C
1 paper
NM_002386.4
p.A108delFs
c.323_324delCC
10 papers
NM_002386.4
p.L106Q
c.317T>A
7 papers
NM_002386.4
p.L106P
c.317T>C
9 papers
NM_002386.4
p.R109W
c.325C>T
1 paper
NM_002386.4
p.A105E
c.314C>A
3 papers
NM_002386.4
p.R109Q
c.326G>A
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