Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.R137G

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.R137G
c.409C>G
Surrounding Variants
19 papers
NM_000529.2
p.R137W
c.409C>T
1 paper
NM_000529.2
p.R137L
c.410G>T
1 paper
NM_000529.2
p.R137P
c.410G>C
1 paper
NM_000529.2
p.A135del1
c.403_404delTGC
1 paper
NM_000529.2
p.Y138F
c.413A>T
1 paper
NM_000529.2
p.Y138*
c.414C>G
1 paper
NM_000529.2
p.Y138*
c.414C>A
8 papers
NM_000529.2
p.H139Y
c.415C>T
1 paper
NM_000529.2
p.I141I
c.423C>T
13 papers
NM_000529.2
p.V142L
c.424G>T
13 papers
NM_000529.2
p.V142L
c.424G>C
1 paper
NM_000529.2
p.V142V
c.426G>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."