Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.G248C

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.G248C
c.742G>T
Surrounding Variants
1 paper
NM_002386.4
p.G248delFs
c.743_744delGC
4 papers
NM_002386.4
p.G248D
c.743G>A
1 paper
NM_002386.4
p.L247L
c.741G>A
8 papers
NM_002386.4
p.G248V
c.743G>T
1 paper
NM_002386.4
p.I249insFs
c.745dupA
1 paper
NM_002386.4
p.L247P
c.740T>C
1 paper
NM_002386.4
p.F250delFs
c.748delT
1 paper
NM_002386.4
p.L247M
c.739C>A
1 paper
NM_002386.4
p.L247_G248insC
c.739_743ins3
1 paper
NM_002386.4
p.L247L
c.739C>T
5 papers
NM_002386.4
p.F250V
c.748T>G
1 paper
NM_002386.4
p.L246_L247ins0
c.737_739dupTGC
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