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.G281A

c.842G>C

Surrounding Variants

1 paper

NM_000017.4

p.A283T

c.847G>A

2 papers

NM_000017.4

p.A283V

c.848C>T

1 paper

NM_000017.4

p.Q284_T285delFs

c.852_855del4

1 paper

NM_000017.4

p.T285S

c.854C>G

2 papers

NM_000017.4

p.S277F

c.830C>T

1 paper

NM_000017.4

p.A286_C289del4

c.856_866del12

4 papers

NM_000017.4

p.A276T

c.826G>A

1 paper

NM_000017.4

p.D288Y

c.862G>T

1 paper

NM_000017.4

p.D288G

c.863A>G

3 papers

NM_000017.4

p.G274S

c.820G>A

1 paper

NM_000017.4

p.G274C

c.820G>T

1 paper

NM_000017.4

p.A290G

c.869C>G