Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.D107A

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.D107A
c.320A>C
Surrounding Variants
2 papers
NM_000529.2
p.D107G
c.320A>G
26 papers
NM_000529.2
p.D107N
c.319G>A
1 paper
NM_000529.2
p.I105_I106delFs
c.315_316delTG
1 paper
NM_000529.2
p.S108F
c.323C>T
1 paper
NM_000529.2
p.L109V
c.325C>G
1 paper
NM_000529.2
p.L109Q
c.326T>A
1 paper
NM_000529.2
p.S108delFs
c.323_324delGG
1 paper
NM_000529.2
p.I105V
c.313A>G
1 paper
NM_000529.2
p.D104A
c.311A>C
3 papers
NM_000529.2
p.D104N
c.310G>A
1 paper
NM_000529.2
p.D103A
c.308A>C
25 papers
NM_000529.2
p.D103N
c.307G>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."