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

9 papers

NM_001609.4

p.R13K

c.38G>A

Surrounding Variants

1 paper

NM_001609.4

p.L14_L15Splc

c.42+27G>A

1 paper

NM_001609.4

p.M1R

c.2T>G

1 paper

NM_001609.4

p.M1insFs

c.2_3insA

1 paper

NM_001609.4

p.M1ins1

c.2_3insAAA

1 paper

NM_001609.4

p.M1V

c.1A>G