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

7 papers

NM_000017.4

p.R107R

c.321T>C

Surrounding Variants

9 papers

NM_000017.4

p.G108S

c.322G>A

5 papers

NM_000017.4

p.R107H

c.320G>A

40 papers

NM_000017.4

p.R107C

c.319C>T

8 papers

NM_000017.4

p.G108D

c.323G>A

1 paper

NM_000017.4

p.S106R

c.318C>A

1 paper

NM_000017.4

p.S106R

c.318C>G

1 paper

NM_000017.4

p.C109R

c.325T>C

1 paper

NM_000017.4

p.S106R

c.316A>C

1 paper

NM_000017.4

p.S106C

c.316A>T

1 paper

NM_000017.4

p.I105I

c.315C>A

2 papers

NM_000017.4

p.A110T

c.328G>A

3 papers

NM_000017.4

p.I105N

c.314T>A