Varaico: Literature-Extracted Genetic Variants

Gene:PEBP1
Variant:p.D70A

PEBP1

82 papers

RefSeq Summary

This gene encodes a member of the phosphatidylethanolamine-binding family of proteins and has been shown to modulate multiple signaling pathways, including the MAP kinase (MAPK), NF-kappa B, and glyco...

Pfam Domains

PBPaa 25–168UCSCPhosphatidylethanolamine-binding protein

Gene Aliases

HGNC Name

phosphatidylethanolamine binding protein 1

HGNC Previous Symbol

PBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002567.4
p.D70A
c.209A>C
Surrounding Variants
1 paper
NM_002567.4
p.D72A
c.215A>C
1 paper
NM_002567.4
p.L68Q
c.203T>A
1 paper
NM_002567.4
p.V67A
c.200T>C
4 papers
NM_002567.4
p.P74L
c.221C>T
1 paper
NM_002567.4
p.D59E
c.177T>A
1 paper
NM_002567.4
p.G57V
c.170G>T
1 paper
NM_002567.4
p.S54L
c.161C>T
1 paper
NM_002567.4
p.E83A
c.248A>C
1 paper
NM_002567.4
p.V90I
c.268G>A
1 paper
NM_002567.4
p.V90A
c.269T>C
1 paper
NM_002567.4
p.N91D
c.271A>G
1 paper
NM_002567.4
p.G100D
c.299G>A
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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."