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.N120_S121Splc

c.360+5G>T

Surrounding Variants

1 paper

NM_000017.4

p.N120_S121Splc

c.360+5G>A

1 paper

NM_000017.4

p.N120K

c.360C>A

1 paper

NM_000017.4

p.N120K

c.360C>G

3 papers

NM_000017.4

p.N120N

c.360C>T

1 paper

NM_000017.4

p.N119I

c.356A>T

1 paper

NM_000017.4

p.M116V

c.346A>G

1 paper

NM_000017.4

p.M116_V118del3

c.346_353del9

2 papers

NM_000017.4

p.G113E

c.338G>A

3 papers

NM_000017.4

p.G113R

c.337G>A

2 papers

NM_000017.4

p.G113R

c.337G>C

4 papers

NM_000017.4

p.S111F

c.332C>T

2 papers

NM_000017.4

p.A110T

c.328G>A