Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.N81fs

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.N81fs
c.241_242fs
Surrounding Variants
3 papers
NM_000529.2
p.E80A
c.239A>C
1 paper
NM_000529.2
p.N81delFs
c.243delA
1 paper
NM_000529.2
p.I82N
c.245T>A
2 papers
NM_000529.2
p.I82_L83insFs
c.246_247insG
1 paper
NM_000529.2
p.N81_I82delFs
c.243_244delTA
1 paper
NM_000529.2
p.L79M
c.235T>A
1 paper
NM_000529.2
p.L83M
c.247C>A
1 paper
NM_000529.2
p.I82del1
c.244_245delGAT
3 papers
NM_000529.2
p.L83Q
c.248T>A
1 paper
NM_000529.2
p.L83L
c.249G>A
1 paper
NM_000529.2
p.I84N
c.251T>A
1 paper
NM_000529.2
p.K77*
c.229A>T
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