Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.T156del1

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.T156del1
c.466_467delCGT
Surrounding Variants
1 paper
NM_000529.2
p.T156M
c.467C>T
2 papers
NM_000529.2
p.C158S
c.472T>A
1 paper
NM_000529.2
p.C158S
c.473G>C
1 paper
NM_000529.2
p.T159M
c.476C>T
1 paper
NM_000529.2
p.T159R
c.476C>G
1 paper
NM_000529.2
p.L151_I154insFs
c.452_461dup10
16 papers
NM_000529.2
p.T159K
c.476C>A
1 paper
NM_000529.2
p.I154fs
c.460_461fs
5 papers
NM_000529.2
p.I154insFs
c.460_461insC
1 paper
NM_000529.2
p.V153delFs
c.458_459delGA
1 paper
NM_000529.2
p.L151_T152del2
c.451_455del6
11 papers
NM_000529.2
p.T152K
c.455C>A
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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."