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.M1V

c.1A>G

Surrounding Variants

1 paper

NM_001608.4

p.M1fs

c.1_2fs

1 paper

NM_001608.4

p.M1R

c.2T>G

1 paper

NM_001608.4

p.M1T

c.2T>C

1 paper

NM_001608.4

p.A2V

c.5C>T

1 paper

NM_001608.4

p.A3S

c.7G>T

1 paper

NM_001608.4

p.A3V

c.8C>T

3 papers

NM_001608.4

p.R4S

c.10C>A

1 paper

NM_001608.4

p.L5delins

c.14delinsCCCT

1 paper

NM_001608.4

p.L13insFs

c.38_39insGC

1 paper

NM_001608.4

p.H16insFs

c.46_47insC

1 paper

NM_001608.4

p.R17C

c.49C>T

2 papers

NM_001608.4

p.R17H

c.50G>A