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

7 papers

NM_014049.5

p.K330Q

c.988A>C

Surrounding Variants

1 paper

NM_014049.5

p.R329G

c.985A>G

19 papers

NM_014049.5

p.A326T

c.976G>A

18 papers

NM_014049.5

p.A326P

c.976G>C

1 paper

NM_014049.5

p.K334T

c.1001A>C

1 paper

NM_014049.5

p.S337G

c.1009A>G

1 paper

NM_014049.5

p.E338A

c.1013A>C

2 papers

NM_014049.5

p.F339V

c.1015T>G

1 paper

NM_014049.5

p.L341S

c.1022T>C

1 paper

NM_014049.5

p.Q343fs

c.1027_1028fs

1 paper

NM_014049.5

p.Q343insFs

c.1029dupG

4 papers

NM_014049.5

p.Q343_E344Splc

c.1030-1G>T

1 paper

NM_014049.5

p.Y354C

c.1061A>G