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.G32R

c.94G>C

Surrounding Variants

1 paper

NM_001608.4

p.G32R

c.94G>A

1 paper

NM_001608.4

p.G32G

c.96G>A

1 paper

NM_001608.4

p.G31R

c.91G>C

1 paper

NM_001608.4

p.G31R

c.91G>A

3 papers

NM_001608.4

p.H29R

c.86A>G

1 paper

NM_001608.4

p.R35C

c.103C>T

2 papers

NM_001608.4

p.T38I

c.113C>T

1 paper

NM_001608.4

p.P39_S40del1

c.116_118delAAG

2 papers

NM_001608.4

p.K42R

c.125A>G

2 papers

NM_001608.4

p.T45K

c.134C>A

1 paper

NM_001608.4

p.R50P

c.149G>C

1 paper

NM_001608.4

p.R50Q

c.149G>A