Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.V239I

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.V239I
c.715G>A
Surrounding Variants
1 paper
NM_000529.2
p.H238Q
c.714T>G
1 paper
NM_000529.2
p.H238Q
c.714T>A
4 papers
NM_000529.2
p.H238Y
c.712C>T
1 paper
NM_000529.2
p.H238N
c.712C>A
1 paper
NM_000529.2
p.L237P
c.710T>C
1 paper
NM_000529.2
p.V236M
c.706G>A
1 paper
NM_000529.2
p.F235Y
c.704T>A
4 papers
NM_000529.2
p.P234delFs
c.702delG
2 papers
NM_000529.2
p.P234L
c.701C>T
1 paper
NM_000529.2
p.P234S
c.700C>T
1 paper
NM_000529.2
p.A233V
c.698C>T
2 papers
NM_000529.2
p.A233D
c.698C>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."