Varaico: Literature-Extracted Genetic Variants

Gene:ACBD5
Variant:p.K215del1

ACBD5

68 papers

RefSeq Summary

This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the d...

Pfam Domains

ACBPaa 9–88UCSCAcyl CoA binding protein

Gene Aliases

HGNC Name

acyl-CoA binding domain containing 5

HGNC Alias Symbols

DKFZp434A2417; KIAA1996

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145698.5
p.K215del1
c.643_645delCTT
Surrounding Variants
1 paper
NM_145698.5
p.G229S
c.685G>A
1 paper
NM_145698.5
p.G202E
c.605G>A
1 paper
NM_145698.5
p.G188R
c.562G>A
1 paper
NM_145698.5
p.S185R
c.555T>G
1 paper
NM_145698.5
p.S185R
c.555T>A
1 paper
NM_145698.5
p.S185R
c.553A>C
1 paper
NM_145698.5
p.A182T
c.544G>A
1 paper
NM_145698.5
p.K176R
c.527A>G
1 paper
NM_145698.5
p.P173P
c.519A>G
1 paper
NM_145698.5
p.D277Splc
c.830-2A>G
1 paper
NM_145698.5
p.V283I
c.847G>A
1 paper
NM_145698.5
p.S294N
c.881G>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."