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.H332insFs

c.995_996insT

Surrounding Variants

16 papers

NM_001608.4

p.K333Q

c.997A>C

3 papers

NM_001608.4

p.H332insFs

c.996dupT

1 paper

NM_001608.4

p.K333insFs

c.997_998insG

1 paper

NM_001608.4

p.K333R

c.998A>G

1 paper

NM_001608.4

p.Q331R

c.992A>G

1 paper

NM_001608.4

p.L334*

c.1001T>G

15 papers

NM_001608.4

p.T329A

c.985A>G

1 paper

NM_001608.4

p.E336K

c.1006G>A

1 paper

NM_001608.4

p.H340fs

c.1018_1019fs

1 paper

NM_001608.4

p.H340delFs

c.1018_1019delTG

2 papers

NM_001608.4

p.A346V

c.1037C>T

1 paper

NM_001608.4

p.T344_F347del4

c.1030_1040del12