Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L237fs

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.L237fs
c.709_710fs
Surrounding Variants
1 paper
NM_002386.4
p.L237F
c.709C>T
3 papers
NM_002386.4
p.G236D
c.707G>A
1 paper
NM_002386.4
p.G236S
c.706G>A
1 paper
NM_002386.4
p.F235L
c.705T>A
1 paper
NM_002386.4
p.F235L
c.705T>G
1 paper
NM_002386.4
p.K238N
c.714A>C
1 paper
NM_002386.4
p.K238N
c.714A>T
1 paper
NM_002386.4
p.F235Y
c.704T>A
1 paper
NM_002386.4
p.F235L
c.703T>C
1 paper
NM_002386.4
p.G239_A240delFs
c.717_720del4
4 papers
NM_002386.4
p.G239G
c.717C>T
2 papers
NM_002386.4
p.G234D
c.701G>A
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