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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEBP4

Variant:p.T171A

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

chr8:22724849 T>C

NM_144962.3

p.T171A

c.511A>G

PBP

exact variant not in gnomAD14 overlapping SVs

Surrounding Variants

1 paper

chr8:22724914 C>G

NM_144962.3

p.R149P

c.446G>C

PBP

exact variant not in gnomAD15 overlapping SVs

1 paper

chr8:22724914 C>T

NM_144962.3

p.R149H

c.446G>A

PBP

Exome: 0.0% (AC=39, hom=0)Genome: 0.0% (AC=13, hom=0)15 overlapping SVs

1 paper

chr8:22724915 G>T

NM_144962.3

p.R149S

c.445C>A

PBP

Exome: 0.0% (AC=126, hom=0)Genome: 0.1% (AC=108, hom=0)15 overlapping SVs

1 paper

chr8:22724916 A>G

NM_144962.3

p.H148H

c.444T>C

PBP

Exome: 1.4% (AC=20197, hom=621)Genome: 4.7% (AC=7221, hom=403)15 overlapping SVs

1 paper

chr8:22724933 C>T

NM_144962.3

p.A143T

c.427G>A

PBP

exact variant not in gnomAD15 overlapping SVs

2 papers

chr8:22727205 T>C

NM_144962.3

p.K125E

c.373A>G

PBP

Exome: 46.7% (AC=681995, hom=162165)Genome: 53.2% (AC=80883, hom=22749)15 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."