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.D269V

c.806A>T

Surrounding Variants

1 paper

NM_000017.4

p.L268L

c.802C>T

1 paper

NM_000017.4

p.R272G

c.814C>G

5 papers

NM_000017.4

p.R272C

c.814C>T

1 paper

NM_000017.4

p.Q266R

c.797A>G

10 papers

NM_000017.4

p.R272H

c.815G>A

2 papers

NM_000017.4

p.Q266*

c.796C>T

1 paper

NM_000017.4

p.Q266delFs

c.797delA

1 paper

NM_000017.4

p.M265_Q266Splc

c.796-2A>G

3 papers

NM_000017.4

p.G274S

c.820G>A

1 paper

NM_000017.4

p.G274C

c.820G>T

4 papers

NM_000017.4

p.A276T

c.826G>A

2 papers

NM_000017.4

p.S277F

c.830C>T