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

7 papers

NM_001609.4

p.P249delFs

c.746delC

Surrounding Variants

1 paper

NM_001330174.3

p.P147fs

c.439_440fs

5 papers

NM_001609.4

p.P249fs

c.745_746fs

2 papers

NM_001609.4

p.G247E

c.740G>A

1 paper

NM_001609.4

p.H245L

c.734A>T

1 paper

NM_001609.4

p.H245Y

c.733C>T

2 papers

NM_001609.4

p.G243_L244insFs

c.729_730insTT

3 papers

NM_001609.4

p.G243D

c.728G>A

5 papers

NM_001609.4

p.L255F

c.763C>T

1 paper

NM_001609.4

p.L255P

c.764T>C

1 paper

NM_001609.4

p.R256K

c.767G>A

1 paper

NM_001609.4

p.C261S

c.781T>A

2 papers

NM_001609.4

p.C261Y

c.782G>A