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

1–12 of 273 variants

23 papers

NM_014049.5

p.R532W

c.1594C>T

22 papers

NM_014049.5

p.E413K

c.1237G>A

19 papers

NM_014049.5

p.A326T

c.976G>A

18 papers

NM_014049.5

p.R266Q

c.797G>A

18 papers

NM_014049.5

p.A326P

c.976G>C

18 papers

NM_014049.5

p.R414C

c.1240C>T

17 papers

NM_014049.5

p.R518H

c.1553G>A

14 papers

NM_014049.5

p.R518C

c.1552C>T

13 papers

NM_014049.5

p.F44I

c.130T>A

12 papers

NM_014049.5

p.E63*

c.187G>T

12 papers

NM_014049.5

p.R417C

c.1249C>T

12 papers

NM_014049.5

p.R469W

c.1405C>T