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.V196M

c.586G>A

Surrounding Variants

1 paper

NM_000017.4

p.V196insFs

c.588dupG

2 papers

NM_000017.4

p.A195T

c.583G>A

1 paper

NM_000017.4

p.A194T

c.580G>A

4 papers

NM_000017.4

p.S193L

c.578C>T

7 papers

NM_000017.4

p.A199V

c.596C>T

8 papers

NM_000017.4

p.A192V

c.575C>T

1 paper

NM_000017.4

p.W190*

c.570G>A

1 paper

NM_000017.4

p.W190*

c.569G>A

1 paper

NM_000017.4

p.W190ins0

c.568_570dupTGG

1 paper

NM_000017.4

p.A189T

c.565G>A

1 paper

NM_000017.4

p.L205P

c.614T>C

1 paper

NM_000017.4

p.Q206*

c.616C>T