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

25 papers

NM_000017.4

p.R380W

c.1138C>T

Surrounding Variants

1 paper

NM_000017.4

p.R380R

c.1140G>A

1 paper

NM_000017.4

p.Y382*

c.1146C>G

22 papers

NM_000017.4

p.P377L

c.1130C>T

25 papers

NM_000017.4

p.R383C

c.1147C>T

7 papers

NM_000017.4

p.R383H

c.1148G>A

2 papers

NM_000017.4

p.D384Y

c.1150G>T

4 papers

NM_000017.4

p.A385T

c.1153G>A

2 papers

NM_000017.4

p.A385S

c.1153G>T

1 paper

NM_000017.4

p.A385V

c.1154C>T

2 papers

NM_000017.4

p.R386C

c.1156C>T

4 papers

NM_000017.4

p.R386H

c.1157G>A

1 paper

NM_000017.4

p.I387L

c.1159A>C