Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.C79Y

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
2 papers
NM_002386.4
p.C79Y
c.236G>A
Surrounding Variants
1 paper
NM_002386.4
p.L80V
c.238C>G
1 paper
NM_002386.4
p.L80L
c.238C>T
2 papers
NM_002386.4
p.C78S
c.233G>C
3 papers
NM_002386.4
p.C78F
c.233G>T
3 papers
NM_002386.4
p.L80P
c.239T>C
1 paper
NM_002386.4
p.A81delFs
c.241delG
1 paper
NM_002386.4
p.L80_L85delFs
c.240_253del14
2 papers
NM_002386.4
p.C78S
c.232T>A
3 papers
NM_002386.4
p.C78G
c.232T>G
1 paper
NM_002386.4
p.I77I
c.231C>T
3 papers
NM_002386.4
p.A81T
c.241G>A
12 papers
NM_002386.4
p.A81P
c.241G>C
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