Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.V25F

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.V25F
c.73G>T
Surrounding Variants
1 paper
NM_000529.2
p.V25insFs
c.74_75insG
1 paper
NM_000529.2
p.V24_V25delFs
c.72_73delCC
1 paper
NM_000529.2
p.V24V
c.72G>A
1 paper
NM_000529.2
p.V24insFs
c.70_71insG
4 papers
NM_000529.2
p.L26L
c.76T>C
1 paper
NM_000529.2
p.N17_R23del7
c.49_68del21
1 paper
NM_000529.2
p.L26S
c.77T>C
1 paper
NM_000529.2
p.R23R
c.69T>A
1 paper
NM_000529.2
p.V25delFs
c.75delA
1 paper
NM_000529.2
p.R23C
c.67C>T
1 paper
NM_000529.2
p.P27insFs
c.79_80insA
1 paper
NM_000529.2
p.P27T
c.79C>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."