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.S54S

c.162T>C

Surrounding Variants

1 paper

NM_001608.4

p.P55L

c.164C>T

1 paper

NM_001608.4

p.P55R

c.164C>G

1 paper

NM_001608.4

p.F53C

c.158T>G

1 paper

NM_001608.4

p.E56K

c.166G>A

1 paper

NM_001608.4

p.D58H

c.172G>C

1 paper

NM_001608.4

p.R51*

c.151A>T

1 paper

NM_001608.4

p.R51G

c.151A>G

1 paper

NM_001608.4

p.R50P

c.149G>C

1 paper

NM_001608.4

p.R50Q

c.149G>A

1 paper

NM_001608.4

p.R61Q

c.182G>A

2 papers

NM_001608.4

p.T45K

c.134C>A

4 papers

NM_001608.4

p.F67L

c.199T>C