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

1 paper

NM_000017.4

p.A97_Y98del0

c.289_294del6

Surrounding Variants

1 paper

NM_000017.4

p.A97T

c.289G>A

1 paper

NM_000017.4

p.L96P

c.287T>C

1 paper

NM_000017.4

p.L96M

c.286C>A

1 paper

NM_000017.4

p.L96_A97delFs

c.286_289del4

2 papers

NM_000017.4

p.Y98C

c.293A>G

1 paper

NM_000017.4

p.Y98F

c.293A>T

1 paper

NM_000017.4

p.D94H

c.280G>C

3 papers

NM_000017.4

p.L93I

c.277C>A

1 paper

NM_000017.4

p.A101T

c.301G>A

1 paper

NM_000017.4

p.A101S

c.301G>T

10 papers

NM_000017.4

p.G92C

c.274G>T

2 papers

NM_000017.4

p.M102L

c.304A>T