Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.N56D

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
5 papers
NM_002386.4
p.N56D
c.166A>G
Surrounding Variants
2 papers
NM_002386.4
p.N56Y
c.166A>T
1 paper
NM_002386.4
p.A57delFs
c.170_171delCG
1 paper
NM_002386.4
p.N56_N66delFs
c.167_197del31
1 paper
NM_002386.4
p.N56K
c.168C>A
1 paper
NM_002386.4
p.N56K
c.168C>G
1 paper
NM_002386.4
p.A57del1
c.169_170delGCG
1 paper
NM_002386.4
p.A57T
c.169G>A
1 paper
NM_002386.4
p.E55Q
c.163G>C
1 paper
NM_002386.4
p.E55insFs
c.163_164insA
1 paper
NM_002386.4
p.E55fs
c.163_164fs
1 paper
NM_002386.4
p.A57G
c.170C>G
3 papers
NM_002386.4
p.A57V
c.170C>T
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