Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.Q30H

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.Q30H
c.90G>C
Surrounding Variants
1 paper
NM_002386.4
p.Q30H
c.90G>T
1 paper
NM_002386.4
p.Q30P
c.89A>C
3 papers
NM_002386.4
p.T31A
c.91A>G
5 papers
NM_002386.4
p.Q30*
c.88C>T
4 papers
NM_002386.4
p.T31I
c.92C>T
1 paper
NM_002386.4
p.Q30_T31delFs
c.90_91delGA
1 paper
NM_002386.4
p.G32_A33ins0
c.94_99dup6
2 papers
NM_002386.4
p.N29K
c.87C>A
3 papers
NM_002386.4
p.N29_Q30insFs
c.87_88insA
2 papers
NM_002386.4
p.N29K
c.87C>G
1 paper
NM_002386.4
p.N29S
c.86A>G
2 papers
NM_002386.4
p.N29I
c.86A>T
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