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

1–12 of 212 variants

16 papers

NM_001608.4

p.K333Q

c.997A>C

15 papers

NM_001608.4

p.T329A

c.985A>G

6 papers

NM_001608.4

p.E174K

c.520G>A

4 papers

NM_001608.4

p.F67L

c.199T>C

3 papers

NM_001608.4

p.R4S

c.10C>A

3 papers

NM_001608.4

p.H29R

c.86A>G

3 papers

NM_001608.4

p.I243_K244insFs

c.729_730insTT

3 papers

NM_001608.4

p.T310fs

c.928_929fs

3 papers

NM_001608.4

p.T310delFs

c.928_929delGT

3 papers

NM_001608.4

p.H332insFs

c.996dupT

3 papers

NM_001608.4

p.C366Y

c.1097G>A

3 papers

NM_001608.4

p.Q385*

c.1153C>T