Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.L224M

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.L224M
c.670C>A
Surrounding Variants
1 paper
NM_000529.2
p.L224R
c.671T>G
1 paper
NM_000529.2
p.I223_L224del2
c.667_671del6
1 paper
NM_000529.2
p.T222delFs
c.666delG
4 papers
NM_000529.2
p.L225R
c.674T>G
1 paper
NM_000529.2
p.T222delFs
c.664_665delGT
1 paper
NM_000529.2
p.T222S
c.665C>G
9 papers
NM_000529.2
p.G226R
c.676G>C
9 papers
NM_000529.2
p.G226R
c.676G>A
1 paper
NM_000529.2
p.T222S
c.664A>T
1 paper
NM_000529.2
p.G226insFs
c.677_678insA
2 papers
NM_000529.2
p.G226A
c.677G>C
1 paper
NM_000529.2
p.V227delFs
c.680delA
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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."