Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.P271T

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.P271T
c.811C>A
Surrounding Variants
1 paper
NM_002386.4
p.P271S
c.811C>T
1 paper
NM_002386.4
p.P271H
c.812C>A
1 paper
NM_002386.4
p.H270insFs
c.810dupC
2 papers
NM_002386.4
p.P271P
c.813C>T
3 papers
NM_002386.4
p.T272A
c.814A>G
1 paper
NM_002386.4
p.H270Y
c.808C>T
3 papers
NM_002386.4
p.T272K
c.815C>A
8 papers
NM_002386.4
p.T272M
c.815C>T
2 papers
NM_002386.4
p.T272_C273delFs
c.816_817delGT
2 papers
NM_002386.4
p.E269K
c.805G>A
2 papers
NM_002386.4
p.C273G
c.817T>G
2 papers
NM_002386.4
p.P268_E269insFs
c.804_805insG
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