Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.G32_A33ins0

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.G32_A33ins0
c.94_99dup6
Surrounding Variants
4 papers
NM_002386.4
p.T31I
c.92C>T
1 paper
NM_002386.4
p.G32delFs
c.95_96delGA
3 papers
NM_002386.4
p.T31A
c.91A>G
1 paper
NM_002386.4
p.G32A
c.95G>C
1 paper
NM_002386.4
p.G32V
c.95G>T
1 paper
NM_002386.4
p.A33delFs
c.97delG
1 paper
NM_002386.4
p.Q30H
c.90G>C
1 paper
NM_002386.4
p.Q30H
c.90G>T
1 paper
NM_002386.4
p.Q30P
c.89A>C
1 paper
NM_002386.4
p.A33T
c.97G>A
1 paper
NM_002386.4
p.A33delFs
c.98delC
5 papers
NM_002386.4
p.Q30*
c.88C>T
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