Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.A218T

MC2R

286 papers

RefSeq Summary

MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from ...

Pfam Domains

7tm_1aa 41–276UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 2 receptor

HGNC Alias Symbol

ACTHR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000529.2
p.A218T
c.652G>A
Surrounding Variants
2 papers
NM_000529.2
p.A218insFs
c.652_653insA
2 papers
NM_000529.2
p.A218fs
c.652_653fs
14 papers
NM_000529.2
p.G217fs
c.649_650fs
4 papers
NM_000529.2
p.A218V
c.653C>T
1 paper
NM_000529.2
p.A218insFs
c.653_654insA
1 paper
NM_000529.2
p.G217A
c.650G>C
1 paper
NM_000529.2
p.G217fs
c.649_650fs
1 paper
NM_000529.2
p.I219T
c.656T>C
1 paper
NM_000529.2
p.K216_A218del3
c.646_653del9
1 paper
NM_000529.2
p.I219del1
c.655_656delGAT
1 paper
NM_000529.2
p.M215T
c.644T>C
1 paper
NM_000529.2
p.N214del1
c.640_641delGTT
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