Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.T177A

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.T177A
c.529A>G
Surrounding Variants
1 paper
NM_002386.4
p.T177M
c.530C>T
1 paper
NM_002386.4
p.S176N
c.527G>A
1 paper
NM_002386.4
p.T177T
c.531G>A
1 paper
NM_002386.4
p.F175_S176insFs
c.525_526insT
1 paper
NM_002386.4
p.F175S
c.524T>C
2 papers
NM_002386.4
p.F175C
c.524T>G
1 paper
NM_002386.4
p.F179fs
c.535_536fs
1 paper
NM_002386.4
p.F175insFs
c.524_525insT
37 papers
NM_002386.4
p.F179_I180insFs
c.537_538insC
1 paper
NM_002386.4
p.F179_I180insFs
c.537_538insG
1 paper
NM_002386.4
p.F179_I180insFs
c.537_538insT
1 paper
NM_002386.4
p.F179F
c.537C>T
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