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

1 paper

NM_014049.5

p.F54delFs

c.162delC

Surrounding Variants

1 paper

NM_014049.5

p.P55S

c.163C>T

1 paper

NM_014049.5

p.V53G

c.158T>G

1 paper

NM_014049.5

p.F56L

c.168T>A

1 paper

NM_014049.5

p.K51I

c.152A>T

1 paper

NM_014049.5

p.P57Q

c.170C>A

1 paper

NM_014049.5

p.P57L

c.170C>T

1 paper

NM_014049.5

p.K50_K51Splc

c.151-1G>C

2 papers

NM_014049.5

p.K50_K51Splc

c.151-2A>G

1 paper

NM_014049.5

p.V59F

c.175G>T

1 paper

NM_014049.5

p.S60R

c.178A>C

1 paper

NM_014049.5

p.D62_E63insC

c.184_188ins3

12 papers

NM_014049.5

p.E63*

c.187G>T