Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.N248delFs

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.N248delFs
c.743_744delGT
Surrounding Variants
1 paper
NM_000529.2
p.P249R
c.746C>G
1 paper
NM_000529.2
p.F244_P249del0
c.731_745del15
1 paper
NM_000529.2
p.N248D
c.742A>G
1 paper
NM_000529.2
p.C251S
c.751T>A
11 papers
NM_000529.2
p.S247G
c.739A>G
1 paper
NM_000529.2
p.S247_N248insC
c.739_743ins3
19 papers
NM_000529.2
p.C251F
c.752G>T
1 paper
NM_000529.2
p.C251S
c.752G>C
1 paper
NM_000529.2
p.C251Y
c.752G>A
1 paper
NM_000529.2
p.A252T
c.754G>A
1 paper
NM_000529.2
p.F244_C245del2
c.730_734del6
1 paper
NM_000529.2
p.C245S
c.734G>C
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