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

1 paper

NM_000017.4

p.A355T

c.1063G>A

Surrounding Variants

1 paper

NM_000017.4

p.A355D

c.1064C>A

1 paper

NM_000017.4

p.E354D

c.1062G>C

3 papers

NM_000017.4

p.A356T

c.1066G>A

1 paper

NM_000017.4

p.E354K

c.1060G>A

1 paper

NM_000017.4

p.A356V

c.1067C>T

11 papers

NM_000017.4

p.S353L

c.1058C>T

1 paper

NM_000017.4

p.S353P

c.1057T>C

1 paper

NM_000017.4

p.A352A

c.1056C>T

1 paper

NM_000017.4

p.T357I

c.1070C>T

2 papers

NM_000017.4

p.A352V

c.1055C>T

7 papers

NM_000017.4

p.A352T

c.1054G>A

1 paper

NM_000017.4

p.A351P

c.1051G>C