Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.G90V

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.G90V
c.269G>T
Surrounding Variants
1 paper
NM_000529.2
p.G90D
c.269G>A
1 paper
NM_000529.2
p.G90C
c.268G>T
1 paper
NM_000529.2
p.G90_Y91del2
c.268_272del6
2 papers
NM_000529.2
p.N88Y
c.262A>T
1 paper
NM_000529.2
p.K93M
c.278A>T
1 paper
NM_000529.2
p.L92_K93delFs
c.276_277delTG
1 paper
NM_000529.2
p.K93delFs
c.278_279delCT
1 paper
NM_000529.2
p.R95C
c.283C>T
1 paper
NM_000529.2
p.G96R
c.286G>C
1 paper
NM_000529.2
p.I84N
c.251T>A
1 paper
NM_000529.2
p.L83L
c.249G>A
3 papers
NM_000529.2
p.L83Q
c.248T>A
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