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

1 paper

NM_001608.4

p.A217A

c.651G>A

Surrounding Variants

1 paper

NM_001608.4

p.V218I

c.652G>A

1 paper

NM_001608.4

p.A217S

c.649G>T

1 paper

NM_001608.4

p.T219K

c.656C>A

1 paper

NM_001608.4

p.N220H

c.658A>C

1 paper

NM_001608.4

p.E222Q

c.664G>C

1 paper

NM_001608.4

p.E222K

c.664G>A

2 papers

NM_001608.4

p.V213L

c.637G>C

2 papers

NM_001608.4

p.V213M

c.637G>A

1 paper

NM_001608.4

p.V212I

c.634G>A

1 paper

NM_001608.4

p.S210N

c.629G>A

1 paper

NM_001608.4

p.S231delFs

c.693delG

2 papers

NM_001608.4

p.G241A

c.722G>C