Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.F147L

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.F147L
c.439T>C
Surrounding Variants
1 paper
NM_002386.4
p.I146I
c.438C>T
1 paper
NM_002386.4
p.F147L
c.441C>A
1 paper
NM_002386.4
p.F147L
c.441C>G
3 papers
NM_002386.4
p.F147del1
c.439_441delTTC
1 paper
NM_002386.4
p.Y148H
c.442T>C
1 paper
NM_002386.4
p.Y148*
c.444C>G
3 papers
NM_002386.4
p.S145F
c.434C>T
2 papers
NM_002386.4
p.Y148Y
c.444C>T
15 papers
NM_002386.4
p.A149T
c.445G>A
1 paper
NM_002386.4
p.S145A
c.433T>G
1 paper
NM_002386.4
p.I144I
c.432C>A
1 paper
NM_002386.4
p.A149V
c.446C>T
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