Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L252R

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.L252R
c.755T>G
Surrounding Variants
1 paper
NM_002386.4
p.L252P
c.755T>C
2 papers
NM_002386.4
p.L252delFs
c.754delC
1 paper
NM_002386.4
p.C253C
c.759C>T
1 paper
NM_002386.4
p.W254R
c.760T>C
1 paper
NM_002386.4
p.W254_G255insT
c.760_764ins3
1 paper
NM_002386.4
p.F250Y
c.749T>A
1 paper
NM_002386.4
p.W254C
c.762G>C
5 papers
NM_002386.4
p.F250V
c.748T>G
3 papers
NM_002386.4
p.G255R
c.763G>C
3 papers
NM_002386.4
p.G255D
c.764G>A
1 paper
NM_002386.4
p.F250delFs
c.748delT
1 paper
NM_002386.4
p.G255G
c.765C>A
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