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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEBP4

Variant:p.N220delFs

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

6 papers

chr8:22713394 GT>G

NM_144962.3

p.N220delFs

c.659delT

Exome: 31.2% (AC=452394, hom=71772)Genome: 30.6% (AC=46510, hom=7322)13 overlapping SVs

Surrounding Variants

7 papers

chr8:22713394 G>GN

NM_144962.3

p.N220fs

c.658_659fs

exact variant not in gnomAD13 overlapping SVs

1 paper

chr8:22713396 GTT>N

NM_144962.3

p.N220fs

c.658_659fs

exact variant not in gnomAD13 overlapping SVs

1 paper

chr8:22713389 G>A

NM_144962.3

p.A222V

c.665C>T

Exome: 0.9% (AC=13222, hom=72)Genome: 0.7% (AC=892, hom=4)13 overlapping SVs

1 paper

chr8:22713370 C>G

NM_144962.3

p.*228Y

c.684G>C

Exome: 0.0% (AC=77, hom=0)Genome: 0.0% (AC=56, hom=0)13 overlapping SVs

3 papers

chr8:22713422 T>C

NM_144962.3

p.E211G

c.632A>G

Exome: 31.2% (AC=455549, hom=72469)Genome: 30.6% (AC=46573, hom=7339)13 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."