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

1–12 of 153 variants

29 papers

NM_001609.4

p.M389V

c.1165A>G

21 papers

NM_001609.4

p.T148I

c.443C>T

14 papers

NM_001609.4

p.V219M

c.655G>A

12 papers

NM_001609.4

p.E387K

c.1159G>A

11 papers

NM_001609.4

p.G101_L102Splc

c.303+3A>G

10 papers

NM_001609.4

p.G101_L102Splc

c.303+1G>A

9 papers

NM_001609.4

p.R13K

c.38G>A

9 papers

NM_001609.4

p.Y283C

c.848A>G

8 papers

NM_001609.4

p.S92*

c.275C>G

7 papers

NM_001609.4

p.P249delFs

c.746delC

6 papers

NM_001609.4

p.W207*

c.621G>A

6 papers

NM_001609.4

p.C308Y

c.923G>A