Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.D70A

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.D70A
c.209A>C
Surrounding Variants
1 paper
NM_000529.2
p.D70_M71insG
c.208_212ins3
1 paper
NM_000529.2
p.S69delFs
c.206delG
1 paper
NM_000529.2
p.M71L
c.211A>T
1 paper
NM_000529.2
p.M71T
c.212T>C
3 papers
NM_000529.2
p.S69C
c.206C>G
1 paper
NM_000529.2
p.L72delFs
c.214delG
4 papers
NM_000529.2
p.A67A
c.201C>T
1 paper
NM_000529.2
p.A67D
c.200C>A
1 paper
NM_000529.2
p.A67S
c.199G>T
1 paper
NM_000529.2
p.G73delFs
c.219delG
1 paper
NM_000529.2
p.L72_G73del2
c.214_218del6
44 papers
NM_000529.2
p.S74I
c.221G>T
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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."