Varaico: Literature-Extracted Genetic Variants

Gene:ACBD5
Variant:p.G402fs

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
3 papers
NM_145698.5
p.G402fs
c.1204_1205fs
Surrounding Variants
3 papers
NM_145698.5
p.G402Splc
c.1205-1G>A
1 paper
NM_145698.5
p.H403fs
c.1207_1208fs
1 paper
NM_145698.5
p.D429N
c.1285G>A
2 papers
NM_145698.5
p.R433*
c.1297C>T
1 paper
NM_145698.5
p.G434_L436delFs
c.1302_1306del5
1 paper
NM_145698.5
p.Q439K
c.1315C>A
1 paper
NM_145698.5
p.M445I
c.1335G>T
1 paper
NM_145698.5
p.M445I
c.1335G>C
1 paper
NM_145698.5
p.M445I
c.1335G>A
1 paper
NM_145698.5
p.T463M
c.1388C>T
1 paper
NM_145698.5
p.G402Splc
c.1204+1G>A
1 paper
NM_145698.5
p.R342H
c.1025G>A
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