Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L113delFs

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.L113delFs
c.337delC
Surrounding Variants
1 paper
NM_002386.4
p.L113V
c.337C>G
5 papers
NM_002386.4
p.V112M
c.334G>A
1 paper
NM_002386.4
p.L113R
c.338T>G
2 papers
NM_002386.4
p.A111A
c.333G>A
10 papers
NM_002386.4
p.Q114K
c.340C>A
1 paper
NM_002386.4
p.A111G
c.332C>G
12 papers
NM_002386.4
p.A111V
c.332C>T
1 paper
NM_002386.4
p.Q114*
c.340C>T
1 paper
NM_002386.4
p.V112delFs
c.334delG
3 papers
NM_002386.4
p.A111T
c.331G>A
2 papers
NM_002386.4
p.A110A
c.330T>C
1 paper
NM_002386.4
p.A111_V112ins0
c.332_334dupCGG
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