Varaico: Literature-Extracted Genetic Variants

ACADSB

168 papers

RefSeq Summary

Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty aci...

Pfam Domains

Acyl-CoA_dh_Naa 58–170UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 173–268UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 280–428UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase short/branched chain

HGNC Alias Symbols

SBCAD; ACAD7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001609.4

p.G280A

c.839G>C

Surrounding Variants

1 paper

NM_001609.4

p.Q278E

c.832C>G

9 papers

NM_001609.4

p.Y283C

c.848A>G

1 paper

NM_001609.4

p.K284_Y285delFs

c.852_855del4

1 paper

NM_001609.4

p.V270L

c.808G>C

2 papers

NM_001609.4

p.G293insFs

c.878dupG

2 papers

NM_001609.4

p.R294*

c.880A>T

2 papers

NM_001609.4

p.G296*

c.886G>T

1 paper

NM_001609.4

p.A298S

c.892G>T

2 papers

NM_001609.4

p.C261Y

c.782G>A

1 paper

NM_001609.4

p.C261S

c.781T>A

1 paper

NM_001609.4

p.R256K

c.767G>A

1 paper

NM_001609.4

p.L255P

c.764T>C