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.I300V

c.898A>G

Surrounding Variants

1 paper

NM_001608.4

p.V298_A299del2

c.892_896del6

1 paper

NM_001608.4

p.A299_I300del1

c.896_898delTTG

1 paper

NM_001608.4

p.A299A

c.897A>G

1 paper

NM_001608.4

p.S301P

c.901T>C

1 paper

NM_001608.4

p.I295_A296del2

c.883_887del6

1 paper

NM_001608.4

p.E304fs

c.910_911fs

1 paper

NM_001608.4

p.E304_M306delFs

c.911_918del8

1 paper

NM_001608.4

p.L293L

c.877C>T

1 paper

NM_001608.4

p.F307delFs

c.920_921delAA

2 papers

NM_001608.4

p.E291Q

c.871G>C

2 papers

NM_001608.4

p.E291K

c.871G>A

2 papers

NM_001608.4

p.T310fs

c.928_929fs