Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.N118N

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
3 papers
NM_002386.4
p.N118N
c.354T>C
Surrounding Variants
4 papers
NM_002386.4
p.N118K
c.354T>A
4 papers
NM_002386.4
p.N118K
c.354T>G
1 paper
NM_002386.4
p.V119I
c.355G>A
1 paper
NM_002386.4
p.V119A
c.356T>C
4 papers
NM_002386.4
p.V119V
c.357C>A
1 paper
NM_002386.4
p.I120delFs
c.358delA
5 papers
NM_002386.4
p.D117A
c.350A>C
3 papers
NM_002386.4
p.D117G
c.350A>G
1 paper
NM_002386.4
p.I120V
c.358A>G
4 papers
NM_002386.4
p.D117V
c.350A>T
1 paper
NM_002386.4
p.D117delFs
c.351delC
1 paper
NM_002386.4
p.I120_V122delFs
c.359_365del7
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