Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.V60L

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
322 papers
NM_002386.4
p.V60L
c.178G>C
Surrounding Variants
3 papers
NM_002386.4
p.V60M
c.178G>A
326 papers
NM_002386.4
p.V60L
c.178G>T
1 paper
NM_002386.4
p.V60E
c.179T>A
2 papers
NM_002386.4
p.V60G
c.179T>G
4 papers
NM_002386.4
p.V60insFs
c.179_180insC
1 paper
NM_002386.4
p.V60V
c.180G>A
1 paper
NM_002386.4
p.V60_A61delins
c.180_181delinsTA
1 paper
NM_002386.4
p.V59A
c.176T>C
4 papers
NM_002386.4
p.V59G
c.176T>G
3 papers
NM_002386.4
p.V59M
c.175G>A
1 paper
NM_002386.4
p.A61T
c.181G>A
2 papers
NM_002386.4
p.V59L
c.175G>C
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