Varaico: Literature-Extracted Genetic Variants

Gene:POMC

POMC

960 papers

RefSeq Summary

This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight pote...

Pfam Domains

NPPaa 27–70UCSCPro-opiomelanocortin, N-terminal region
ACTH_domainaa 74–91UCSCCorticotropin ACTH domain
ACTH_domainaa 136–155UCSCCorticotropin ACTH domain
ACTH_domainaa 218–236UCSCCorticotropin ACTH domain
Op_neuropeptideaa 237–264UCSCOpioids neuropeptide

Gene Aliases

HGNC Name

proopiomelanocortin

HGNC Alias Symbols

ACTH; NPP; LPH

Papers
RefSeq ID
Protein change
DNA change
1–12 of 1634 variants
58 papers
NM_000939.4
p.R236G
c.706C>G
16 papers
NM_000939.4
p.S4*
c.11C>A
16 papers
NM_000939.4
p.C28F
c.83G>T
16 papers
NM_000939.4
p.W84*
c.251G>A
16 papers
NM_000939.4
p.Y221C
c.662A>G
14 papers
NM_000939.4
p.W84*
c.252G>A
14 papers
NM_000939.4
p.E214G
c.641A>G
12 papers
NM_000939.4
p.P132A
c.394C>G
11 papers
NM_000939.4
p.F144L
c.430T>C
11 papers
NM_000939.4
p.F144L
c.432C>G
11 papers
NM_000939.4
p.F144L
c.432C>A
10 papers
NM_000939.4
p.L37F
c.109C>T
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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."