Varaico: Literature-Extracted Genetic Variants

ACAD9

251 papers

RefSeq Summary

This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl...

Pfam Domains

Acyl-CoA_dh_Naa 4–50UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 54–155UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_Naa 65–173UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_1aa 167–318UCSCAcyl-CoA dehydrogenase, C-terminal domain

ACAD9-ACADV_Caa 369–488UCSCACAD9/ACADV, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase family member 9

HGNC Alias Symbols

NPD002; MGC14452

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014049.5

p.L263L

c.787T>C

Surrounding Variants

1 paper

NM_014049.5

p.L263*

c.788T>A

1 paper

NM_014049.5

p.L263*

c.788T>G

1 paper

NM_014049.5

p.I265V

c.793A>G

6 papers

NM_014049.5

p.R266W

c.796C>T

18 papers

NM_014049.5

p.R266Q

c.797G>A

1 paper

NM_014049.5

p.P259H

c.776C>A

1 paper

NM_014049.5

p.G267insFs

c.800_801insT

1 paper

NM_014049.5

p.S268_N269insG

c.802_806ins3

3 papers

NM_014049.5

p.S268F

c.803C>T

2 papers

NM_014049.5

p.G257R

c.769G>A

2 papers

NM_014049.5

p.G257R

c.769G>C

2 papers

NM_014049.5

p.T255I

c.764C>T