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

29 papers

NM_001609.4

p.M389V

c.1165A>G

Surrounding Variants

1 paper

NM_001609.4

p.M389fs

c.1165_1166fs

2 papers

NM_001609.4

p.G391delFs

c.1172delG

12 papers

NM_001609.4

p.E387K

c.1159G>A

1 paper

NM_001609.4

p.I386M

c.1158C>G

1 paper

NM_001609.4

p.K384N

c.1152A>C

1 paper

NM_001609.4

p.S383N

c.1148G>A

3 papers

NM_001609.4

p.T382M

c.1145C>T

2 papers

NM_001609.4

p.K396E

c.1186A>G

1 paper

NM_001609.4

p.K396T

c.1187A>C

1 paper

NM_001609.4

p.K402delFs

c.1204delA

1 paper

NM_001609.4

p.R405Q

c.1214G>A

1 paper

NM_001609.4

p.A407S

c.1219G>T