Varaico: Literature-Extracted Genetic Variants

Gene:MC2R

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
1–12 of 414 variants
44 papers
NM_000529.2
p.S74I
c.221G>T
32 papers
NM_000529.2
p.R146H
c.437G>A
27 papers
NM_000529.2
p.R128C
c.382C>T
26 papers
NM_000529.2
p.D107N
c.319G>A
25 papers
NM_000529.2
p.D103N
c.307G>A
21 papers
NM_000529.2
p.I44M
c.132C>G
20 papers
NM_000529.2
p.S120R
c.358A>C
20 papers
NM_000529.2
p.S120R
c.360C>G
20 papers
NM_000529.2
p.S120R
c.360C>A
19 papers
NM_000529.2
p.R137W
c.409C>T
19 papers
NM_000529.2
p.C251F
c.752G>T
19 papers
NM_000529.2
p.Y254C
c.761A>G
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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."