Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V165V

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.V165V
c.495T>C
Surrounding Variants
3 papers
NM_002386.4
p.A166insFs
c.496_497insG
1 paper
NM_002386.4
p.V165_A166insFs
c.495_496insGG
2 papers
NM_002386.4
p.A166T
c.496G>A
1 paper
NM_002386.4
p.A166P
c.496G>C
1 paper
NM_002386.4
p.A166fs
c.496_497fs
1 paper
NM_002386.4
p.A166insFs
c.497_498insG
8 papers
NM_002386.4
p.A166G
c.497C>G
2 papers
NM_002386.4
p.A166V
c.497C>T
3 papers
NM_002386.4
p.V165I
c.493G>A
1 paper
NM_002386.4
p.A164A
c.492C>A
2 papers
NM_002386.4
p.A164A
c.492C>T
7 papers
NM_002386.4
p.A166A
c.498G>A
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