Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.A213D

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.A213D
c.638C>A
Surrounding Variants
1 paper
NM_000529.2
p.A213T
c.637G>A
2 papers
NM_000529.2
p.R212insFs
c.635_636insC
4 papers
NM_000529.2
p.R212delFs
c.634delT
2 papers
NM_000529.2
p.R212fs
c.634_635fs
1 paper
NM_000529.2
p.M215L
c.643A>T
1 paper
NM_000529.2
p.M215L
c.643A>C
1 paper
NM_000529.2
p.M215insFs
c.643_644insT
1 paper
NM_000529.2
p.N214delFs
c.642delG
1 paper
NM_000529.2
p.M215T
c.644T>C
1 paper
NM_000529.2
p.N214del1
c.640_641delGTT
1 paper
NM_000529.2
p.G217fs
c.649_650fs
1 paper
NM_000529.2
p.G217A
c.650G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."