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.R359C

c.1075C>T

Surrounding Variants

1 paper

NM_001608.4

p.K358R

c.1073A>G

1 paper

NM_001608.4

p.L360L

c.1078T>C

1 paper

NM_001608.4

p.K358E

c.1072A>G

1 paper

NM_001608.4

p.A357V

c.1070C>T

1 paper

NM_001608.4

p.E356K

c.1066G>A

1 paper

NM_001608.4

p.L352P

c.1055T>C

1 paper

NM_001608.4

p.L352I

c.1054C>A

3 papers

NM_001608.4

p.C366Y

c.1097G>A

1 paper

NM_001608.4

p.T344_F347del4

c.1030_1040del12

2 papers

NM_001608.4

p.A346V

c.1037C>T

1 paper

NM_001608.4

p.W371Splc

c.1112+2T>C

1 paper

NM_001608.4

p.H340delFs

c.1018_1019delTG