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

13 papers

NM_014049.5

p.F44I

c.130T>A

Surrounding Variants

1 paper

NM_014049.5

p.L43V

c.127C>G

1 paper

NM_014049.5

p.P35delFs

c.104delC

1 paper

NM_014049.5

p.A25V

c.74C>T

1 paper

NM_014049.5

p.T24T

c.72C>T

1 paper

NM_014049.5

p.S23insFs

c.67_68insA

1 paper

NM_014049.5

p.V21insFs

c.62_63insC

1 paper

NM_014049.5

p.L20P

c.59T>C

1 paper

NM_014049.5

p.R18fs

c.52_53fs

1 paper

NM_014049.5

p.C17Y

c.50G>A

1 paper

NM_014049.5

p.R15P

c.44G>C

1 paper

NM_014049.5

p.R15insFs

c.44_45ins4

1 paper

NM_014049.5

p.A13delFs

c.39delG