Varaico: Literature-Extracted Genetic Variants

ACADL

289 papers

RefSeq Summary

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This pro...

Pfam Domains

Acyl-CoA_dh_Naa 54–165UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 169–266UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 278–427UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase long chain

HGNC Alias Symbols

LCAD; ACAD4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001608.4

p.I243_K244insFs

c.729_730insTT

Surrounding Variants

1 paper

NM_001608.4

p.I243S

c.728T>G

1 paper

NM_001608.4

p.G245_R246insT

c.733_737ins3

2 papers

NM_001608.4

p.G241A

c.722G>C

1 paper

NM_001608.4

p.R246*

c.736C>T

1 paper

NM_001608.4

p.R246Q

c.737G>A

2 papers

NM_001608.4

p.K247E

c.739A>G

1 paper

NM_001608.4

p.K247T

c.740A>C

1 paper

NM_001608.4

p.G252*

c.754G>T

1 paper

NM_001608.4

p.S231delFs

c.693delG

1 paper

NM_001608.4

p.E222Q

c.664G>C

1 paper

NM_001608.4

p.E222K

c.664G>A

1 paper

NM_001608.4

p.N220H

c.658A>C