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.K91R

c.272A>G

Surrounding Variants

5 papers

NM_001609.4

p.S92*

c.275C>A

8 papers

NM_001609.4

p.S92*

c.275C>G

1 paper

NM_001609.4

p.Q95K

c.283C>A

2 papers

NM_001609.4

p.G96R

c.286G>A

1 paper

NM_001609.4

p.E85Q

c.253G>C

1 paper

NM_001609.4

p.F98C

c.293T>G

4 papers

NM_001609.4

p.Q99*

c.295C>T

1 paper

NM_001609.4

p.M83V

c.247A>G

1 paper

NM_001609.4

p.T82S

c.245C>G

1 paper

NM_001609.4

p.T82S

c.244A>T

1 paper

NM_001609.4

p.G101G

c.303G>A

10 papers

NM_001609.4

p.G101_L102Splc

c.303+1G>A