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.G260R

c.778G>C

Surrounding Variants

1 paper

NM_000017.4

p.G260C

c.778G>T

2 papers

NM_000017.4

p.G260V

c.779G>T

1 paper

NM_000017.4

p.F261I

c.781T>A

1 paper

NM_000017.4

p.G258E

c.773G>A

1 paper

NM_000017.4

p.A264insFs

c.791_792insG

2 papers

NM_000017.4

p.G255G

c.765G>T

1 paper

NM_000017.4

p.G255fs

c.763_764fs

4 papers

NM_000017.4

p.L254L

c.760C>T

5 papers

NM_000017.4

p.M265_Q266Splc

c.795+1G>A

1 paper

NM_000017.4

p.I253V

c.757A>G

1 paper

NM_000017.4

p.S252I

c.755G>T

1 paper

NM_000017.4

p.D251H

c.751G>C