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

6 papers

NM_001609.4

p.C308Y

c.923G>A

Surrounding Variants

5 papers

NM_001609.4

p.G303A

c.908G>C

1 paper

NM_001609.4

p.G303R

c.907G>A

1 paper

NM_001609.4

p.G303R

c.907G>C

1 paper

NM_001609.4

p.P314L

c.941C>T

1 paper

NM_001609.4

p.L302L

c.904C>T

2 papers

NM_001609.4

p.I316V

c.946A>G

1 paper

NM_001609.4

p.I320I

c.960A>T

1 paper

NM_001609.4

p.Q321*

c.961C>T

1 paper

NM_001609.4

p.L326_F327insT

c.976_980ins3

1 paper

NM_001609.4

p.Q330*

c.988C>T

1 paper

NM_001609.4

p.Q330insFs

c.990dupG

1 paper

NM_001609.4

p.A298S

c.892G>T