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

11 papers

NM_000017.4

p.W177R

c.529T>A

Surrounding Variants

22 papers

NM_000017.4

p.W177R

c.529T>C

2 papers

NM_000017.4

p.W177*

c.531G>A

1 paper

NM_000017.4

p.L179P

c.536T>C

1 paper

NM_000017.4

p.N180D

c.538A>G

1 paper

NM_000017.4

p.G174S

c.520G>A

1 paper

NM_000017.4

p.R171Q

c.512G>A

85 papers

NM_000017.4

p.R171W

c.511C>T

1 paper

NM_000017.4

p.K183I

c.548A>T

1 paper

NM_000017.4

p.A170S

c.508G>T

2 papers

NM_000017.4

p.A170delFs

c.508_509delGC

4 papers

NM_000017.4

p.T169P

c.505A>C

1 paper

NM_000017.4

p.T169A

c.505A>G