Varaico: Literature-Extracted Genetic Variants

Gene:DBI
Variant:p.E43Splc

DBI

41 papers

RefSeq Summary

This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate si...

Pfam Domains

ACBPaa 3–78UCSCAcyl CoA binding protein
ACBPaa 3–78UCSCAcyl CoA binding protein

Gene Aliases

HGNC Name

diazepam binding inhibitor, acyl-CoA binding protein

HGNC Alias Symbols

ACBP; ACBD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079862.4
p.E43Splc
c.127+2T>C
Surrounding Variants
2 papers
NM_001079862.4
p.D39N
c.115G>A
1 paper
NM_020548.9
p.K50I
c.149A>T
1 paper
NM_001079862.4
p.K33E
c.97A>G
1 paper
NM_001079862.4
p.Y32C
c.95A>G
2 papers
NM_001079862.4
p.I28M
c.84C>G
1 paper
NM_001079862.4
p.P20P
c.60A>G
1 paper
NM_001079862.4
p.V13I
c.37G>A
1 paper
NM_001079862.4
p.A10T
c.28G>A
1 paper
NM_001079862.4
p.A10S
c.28G>T
1 paper
NM_001079862.4
p.A9G
c.26C>G
1 paper
NM_001079862.4
p.Q3_A4Splc
c.9+502A>G
1 paper
NM_001079862.4
p.E43V
c.128A>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."