Varaico: Literature-Extracted Genetic Variants

ACADS

408 papers

RefSeq Summary

This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation...

Pfam Domains

Acyl-CoA_dh_Naa 35–147UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 151–246UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 258–407UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase short chain

HGNC Alias Symbols

SCAD; ACAD3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

57 papers

NM_000017.4

p.E344G

c.1031A>G

Surrounding Variants

1 paper

NM_000017.4

p.E344fs

c.1030_1031fs

1 paper

NM_000017.4

p.K343_E344Splc

c.1030-1G>A

1 paper

NM_000017.4

p.K343_E344Splc

c.1030-2A>C

1 paper

NM_000017.4

p.E344delFs

c.1030delG

1 paper

NM_000017.4

p.L350P

c.1049T>C

1 paper

NM_000017.4

p.A351P

c.1051G>C

7 papers

NM_000017.4

p.A352T

c.1054G>A

2 papers

NM_000017.4

p.A352V

c.1055C>T

1 paper

NM_000017.4

p.A352A

c.1056C>T

1 paper

NM_000017.4

p.S353P

c.1057T>C

11 papers

NM_000017.4

p.S353L

c.1058C>T

1 paper

NM_000017.4

p.E354K

c.1060G>A