Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.V49delFs

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.V49delFs
c.145delC
Surrounding Variants
3 papers
NM_000529.2
p.V49L
c.145G>T
3 papers
NM_000529.2
p.V49L
c.145G>C
4 papers
NM_000529.2
p.V49M
c.145G>A
1 paper
NM_000529.2
p.V49fs
c.145_146fs
1 paper
NM_000529.2
p.V49delFs
c.147delC
1 paper
NM_000529.2
p.A48V
c.143C>T
1 paper
NM_000529.2
p.A48S
c.142G>T
1 paper
NM_000529.2
p.F50insFs
c.149dupT
3 papers
NM_000529.2
p.K51*
c.151A>T
1 paper
NM_000529.2
p.K51E
c.151A>G
1 paper
NM_000529.2
p.K51delFs
c.151_152delTT
4 papers
NM_000529.2
p.L46fs
c.136_137fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."