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

1–12 of 371 variants

117 papers

NM_000017.4

p.G209S

c.625G>A

85 papers

NM_000017.4

p.R171W

c.511C>T

57 papers

NM_000017.4

p.E344G

c.1031A>G

40 papers

NM_000017.4

p.P55L

c.164C>T

40 papers

NM_000017.4

p.R107C

c.319C>T

25 papers

NM_000017.4

p.R46W

c.136C>T

25 papers

NM_000017.4

p.R380W

c.1138C>T

25 papers

NM_000017.4

p.R383C

c.1147C>T

22 papers

NM_000017.4

p.W177R

c.529T>C

22 papers

NM_000017.4

p.P377L

c.1130C>T

13 papers

NM_000017.4

p.R325W

c.973C>T

13 papers

NM_000017.4

p.R330C

c.988C>T