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.E389Q

c.1165G>C

Surrounding Variants

1 paper

NM_000017.4

p.E389A

c.1166A>C

1 paper

NM_000017.4

p.E389D

c.1167G>C

1 paper

NM_000017.4

p.E389D

c.1167G>T

1 paper

NM_000017.4

p.I390_Y391insFs

c.1170_1171insT

3 papers

NM_000017.4

p.I390M

c.1170C>G

1 paper

NM_000017.4

p.I390I

c.1170C>T

1 paper

NM_000017.4

p.I387L

c.1159A>C

1 paper

NM_000017.4

p.Y391C

c.1172A>G

1 paper

NM_000017.4

p.Y391*

c.1173C>A

1 paper

NM_000017.4

p.Y391*

c.1173C>G

4 papers

NM_000017.4

p.R386H

c.1157G>A

2 papers

NM_000017.4

p.R386C

c.1156C>T