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.E212delFs

c.636delG

Surrounding Variants

1 paper

NM_001609.4

p.H213H

c.639C>T

1 paper

NM_001609.4

p.A214E

c.641C>A

6 papers

NM_001609.4

p.W207*

c.621G>A

3 papers

NM_001609.4

p.W207*

c.620G>A

2 papers

NM_001330174.3

p.L116insFs

c.347dupT

NM_001609.4

p.L218insFs

c.653dupT

2 papers

NM_001609.4

p.L218P

c.653T>C

14 papers

NM_001609.4

p.V219M

c.655G>A

1 paper

NM_001609.4

p.V219fs

c.655_656fs

1 paper

NM_001609.4

p.G203R

c.607G>A

2 papers

NM_001609.4

p.Y199C

c.596A>G

1 paper

NM_001609.4

p.S185_A187Fs

c.554_559delinsTGTGFs

1 paper

NM_001609.4

p.T168A

c.502A>G