Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.Y254C

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
19 papers
NM_000529.2
p.Y254C
c.761A>G
Surrounding Variants
1 paper
NM_000529.2
p.Y254_M255insT
c.760_764ins3
1 paper
NM_000529.2
p.Y254D
c.760T>G
1 paper
NM_000529.2
p.Y254H
c.760T>C
1 paper
NM_000529.2
p.M255fs
c.763_764fs
1 paper
NM_000529.2
p.C253S
c.758G>C
1 paper
NM_000529.2
p.C253S
c.757T>A
1 paper
NM_000529.2
p.M255I
c.765G>T
1 paper
NM_000529.2
p.M255I
c.765G>C
1 paper
NM_000529.2
p.M255I
c.765G>A
2 papers
NM_000529.2
p.M255delFs
c.763_764delAT
6 papers
NM_000529.2
p.S256F
c.767C>T
1 paper
NM_000529.2
p.A252T
c.754G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."