Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.C267delFs

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.C267delFs
c.800delG
Surrounding Variants
1 paper
NM_002386.4
p.C267G
c.799T>G
1 paper
NM_002386.4
p.C267Y
c.800G>A
1 paper
NM_002386.4
p.E269_P271del3
c.805_812del9
1 paper
NM_002386.4
p.C267*
c.801C>A
7 papers
NM_002386.4
p.C267W
c.801C>G
2 papers
NM_002386.4
p.L266R
c.797T>G
8 papers
NM_002386.4
p.P268R
c.803C>G
1 paper
NM_002386.4
p.V265V
c.795C>G
1 paper
NM_002386.4
p.V265V
c.795C>T
2 papers
NM_002386.4
p.P268_E269insFs
c.804_805insG
1 paper
NM_002386.4
p.V265D
c.794T>A
13 papers
NM_002386.4
p.V265I
c.793G>A
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