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

4 papers

NM_000017.4

p.T169P

c.505A>C

Surrounding Variants

1 paper

NM_000017.4

p.T169A

c.505A>G

2 papers

NM_000017.4

p.A170delFs

c.508_509delGC

2 papers

NM_000017.4

p.T168A

c.502A>G

1 paper

NM_000017.4

p.A170S

c.508G>T

85 papers

NM_000017.4

p.R171W

c.511C>T

1 paper

NM_000017.4

p.S167delFs

c.500delC

1 paper

NM_000017.4

p.S167fs

c.499_500fs

1 paper

NM_000017.4

p.R171Q

c.512G>A

1 paper

NM_000017.4

p.A165P

c.493G>C

1 paper

NM_000017.4

p.G174S

c.520G>A

1 paper

NM_000017.4

p.A163A

c.489A>G

2 papers

NM_000017.4

p.S161N

c.482G>A