Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.F300L

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.F300L
c.900C>A
Surrounding Variants
1 paper
NM_002386.4
p.F300L
c.900C>G
7 papers
NM_002386.4
p.F300F
c.900C>T
11 papers
NM_002386.4
p.H301Y
c.901C>T
1 paper
NM_002386.4
p.F300insFs
c.900dupC
1 paper
NM_002386.4
p.F300L
c.898T>C
1 paper
NM_002386.4
p.F300V
c.898T>G
1 paper
NM_002386.4
p.S302R
c.904A>C
5 papers
NM_002386.4
p.A299V
c.896C>T
11 papers
NM_002386.4
p.A299T
c.895G>A
1 paper
NM_002386.4
p.S302N
c.905G>A
1 paper
NM_002386.4
p.A299S
c.895G>T
2 papers
NM_002386.4
p.Y298*
c.894C>A
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