Varaico: Literature-Extracted Genetic Variants

ACADS

408 papers

RefSeq Summary

This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation...

Pfam Domains

Acyl-CoA_dh_Naa 35–147UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 151–246UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 258–407UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase short chain

HGNC Alias Symbols

SCAD; ACAD3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000017.4

p.I233T

c.698T>C

Surrounding Variants

1 paper

NM_000017.4

p.R234G

c.700C>G

1 paper

NM_000017.4

p.R234W

c.700C>T

1 paper

NM_000017.4

p.G235S

c.703G>A

1 paper

NM_000017.4

p.G235V

c.704G>T

1 paper

NM_000017.4

p.K230T

c.689A>C

7 papers

NM_000017.4

p.E228K

c.682G>A

1 paper

NM_000017.4

p.E228*

c.682G>T

1 paper

NM_000017.4

p.E228fs

c.682_683fs

2 papers

NM_000017.4

p.A239T

c.715G>A

1 paper

NM_000017.4

p.E228delFs

c.682_683delGA

5 papers

NM_000017.4

p.L241F

c.721C>T

2 papers

NM_000017.4

p.F243_E244insFs

c.729_730insTT