Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.E29V

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.E29V
c.86A>T
Surrounding Variants
1 paper
NM_000529.2
p.E29insFs
c.86_87insA
1 paper
NM_000529.2
p.E28A
c.83A>C
1 paper
NM_000529.2
p.E28delFs
c.82delC
1 paper
NM_000529.2
p.F31L
c.91T>C
1 paper
NM_000529.2
p.I30_F31delFs
c.90_91delAT
12 papers
NM_000529.2
p.P27R
c.80C>G
1 paper
NM_000529.2
p.F31L
c.93T>G
1 paper
NM_000529.2
p.F31L
c.93T>A
1 paper
NM_000529.2
p.P27insFs
c.79_80insA
1 paper
NM_000529.2
p.P27T
c.79C>A
1 paper
NM_000529.2
p.V25delFs
c.75delA
1 paper
NM_000529.2
p.L26S
c.77T>C
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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."