Varaico: Literature-Extracted Genetic Variants

Gene:ACBD5
Variant:p.D27G

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.D27G
c.80A>G
Surrounding Variants
1 paper
NM_145698.5
p.D27_R28insFs
c.81_82insA
1 paper
NM_145698.5
p.R24S
c.72A>T
1 paper
NM_145698.5
p.R24S
c.72A>C
1 paper
NM_145698.5
p.H31R
c.92A>G
1 paper
NM_145698.5
p.W32*
c.95G>A
1 paper
NM_145698.5
p.Q33R
c.98A>G
2 papers
NM_145698.5
p.T39M
c.116C>T
1 paper
NM_145698.5
p.V42G
c.125T>G
1 paper
NM_145698.5
p.V42fs
c.124_125fs
1 paper
NM_001042473.4
p.H8Y
c.22C>T
1 paper
NM_145698.5
p.H43insFs
c.128_129insA
1 paper
NM_145698.5
p.E48G
c.143A>G
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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."