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.G115A

c.344G>C

Surrounding Variants

1 paper

NM_001609.4

p.A116T

c.346G>A

1 paper

NM_001609.4

p.A116insFs

c.347dupC

1 paper

NM_001609.4

p.V122_I125delFs

c.365_374del10

2 papers

NM_001609.4

p.G101_L102Splc

c.304-1G>C

1 paper

NM_001609.4

p.V135L

c.403G>T

2 papers

NM_001609.4

p.V137I

c.409G>A

1 paper

NM_001609.4

p.C139Y

c.416G>A

1 paper

NM_001609.4

p.C139F

c.416G>T

1 paper

NM_001609.4

p.E140delFs

c.419delA

1 paper

NM_001609.4

p.L145F

c.435A>C

1 paper

NM_001609.4

p.L145F

c.435A>T

1 paper

NM_001609.4

p.N147Y

c.439A>T