Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.N18_D20del3

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.N18_D20del3
c.52_59del9
Surrounding Variants
12 papers
NM_000529.2
p.C21R
c.61T>C
1 paper
NM_000529.2
p.C21S
c.61T>A
1 paper
NM_000529.2
p.C21S
c.62G>C
3 papers
NM_000529.2
p.C21Y
c.62G>A
1 paper
NM_000529.2
p.D20Y
c.58G>T
6 papers
NM_000529.2
p.D20N
c.58G>A
1 paper
NM_000529.2
p.S19delFs
c.57delG
1 paper
NM_000529.2
p.N17_S19delFs
c.51_57del7
1 paper
NM_000529.2
p.P22delFs
c.64delG
1 paper
NM_000529.2
p.R23C
c.67C>T
1 paper
NM_000529.2
p.R23R
c.69T>A
1 paper
NM_000529.2
p.N17_R23del7
c.49_68del21
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