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.I167F

c.499A>T

Surrounding Variants

1 paper

NM_001608.4

p.G168S

c.502G>A

1 paper

NM_001608.4

p.M172T

c.515T>C

1 paper

NM_001608.4

p.M161T

c.482T>C

1 paper

NM_001608.4

p.T173S

c.517A>T

1 paper

NM_001608.4

p.E174*

c.520G>T

6 papers

NM_001608.4

p.E174K

c.520G>A

1 paper

NM_001608.4

p.I158M

c.474T>G

1 paper

NM_001608.4

p.G178insFs

c.533_534insT

1 paper

NM_001608.4

p.E152Q

c.454G>C

1 paper

NM_001608.4

p.S150_E151delFs

c.449_452del4

1 paper

NM_001608.4

p.S150S

c.450A>G

1 paper

NM_001608.4

p.G149C

c.445G>T