Varaico: Literature-Extracted Genetic Variants

Gene:PEBP4

PEBP4

30 papers

RefSeq Summary

The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine ...

Pfam Domains

PBPaa 65–199UCSCPhosphatidylethanolamine-binding protein

Gene Aliases

HGNC Name

phosphatidylethanolamine binding protein 4

HGNC Alias Symbols

MGC22776; CORK1; hPEBP4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
7 papers
NM_144962.3
p.N220fs
c.658_659fs
6 papers
NM_144962.3
p.N220delFs
c.659delT
3 papers
NM_144962.3
p.E211G
c.632A>G
2 papers
NM_144962.3
p.A88G
c.263C>G
2 papers
NM_144962.3
p.E104G
c.311A>G
2 papers
NM_144962.3
p.K125E
c.373A>G
1 paper
NM_144962.3
p.D39G
c.116A>G
1 paper
NM_144962.3
p.L53F
c.159G>T
1 paper
NM_144962.3
p.L53F
c.159G>C
1 paper
NM_144962.3
p.G54W
c.160G>T
1 paper
NM_144962.3
p.P82L
c.245C>T
1 paper
NM_144962.3
p.W113L
c.338G>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."