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.L42P

c.125T>C

Surrounding Variants

1 paper

NM_000017.4

p.Q39_M40del1

c.116_118delAGA

25 papers

NM_000017.4

p.R46W

c.136C>T

2 papers

NM_000017.4

p.H38L

c.113A>T

1 paper

NM_000017.4

p.F48S

c.143T>C

1 paper

NM_000017.4

p.P35L

c.104C>T

1 paper

NM_000017.4

p.A49A

c.147C>A

1 paper

NM_000017.4

p.E50*

c.148G>T

1 paper

NM_000017.4

p.K51*

c.151A>T

1 paper

NM_000017.4

p.E52G

c.155A>G

1 paper

NM_000017.4

p.L53W

c.158T>G

1 paper

NM_000017.4

p.F54_P55insFs

c.162_163dupTC

1 paper

NM_000017.4

p.P55insFs

c.164_165insCT