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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEBP4

Variant:p.D39G

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:22927599 T>C

NM_144962.3

p.D39G

c.116A>G

Exome: 0.1% (AC=739, hom=11)Genome: 0.1% (AC=81, hom=0)15 overlapping SVs

Surrounding Variants

1 paper

chr8:22920283 C>A

NM_144962.3

p.L53F

c.159G>T

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:22920283 C>G

NM_144962.3

p.L53F

c.159G>C

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:22920282 C>A

NM_144962.3

p.G54W

c.160G>T

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:22920197 G>A

NM_144962.3

p.P82L

c.245C>T

PBP

Exome: 0.2% (AC=2464, hom=3)Genome: 0.1% (AC=149, hom=0)16 overlapping SVs

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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."