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.R247C

c.739C>T

Surrounding Variants

1 paper

NM_000017.4

p.R247L

c.740G>T

1 paper

NM_000017.4

p.I248V

c.742A>G

1 paper

NM_000017.4

p.P249fs

c.745_746fs

1 paper

NM_000017.4

p.K250E

c.748A>G

1 paper

NM_000017.4

p.E244K

c.730G>A

1 paper

NM_000017.4

p.K250R

c.749A>G

1 paper

NM_000017.4

p.F243C

c.728T>G

1 paper

NM_000017.4

p.D251H

c.751G>C

2 papers

NM_000017.4

p.F243_E244insFs

c.729_730insTT

1 paper

NM_000017.4

p.S252I

c.755G>T

1 paper

NM_000017.4

p.I253V

c.757A>G

5 papers

NM_000017.4

p.L241F

c.721C>T