Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.N42insFs

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.N42insFs
c.124_125ins4
Surrounding Variants
1 paper
NM_000529.2
p.N42I
c.125A>T
1 paper
NM_000529.2
p.N42S
c.125A>G
1 paper
NM_000529.2
p.N42_L43insFs
c.126_127insG
1 paper
NM_000529.2
p.E41A
c.122A>C
1 paper
NM_000529.2
p.L43R
c.128T>G
1 paper
NM_000529.2
p.L40delFs
c.119delA
2 papers
NM_000529.2
p.I44N
c.131T>A
21 papers
NM_000529.2
p.I44M
c.132C>G
11 papers
NM_000529.2
p.V45I
c.133G>A
1 paper
NM_000529.2
p.G38E
c.113G>A
2 papers
NM_000529.2
p.V45V
c.135C>T
1 paper
NM_000529.2
p.V37delFs
c.110delA
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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."