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.D562N

c.1684G>A

Surrounding Variants

6 papers

NM_014049.5

p.H563D

c.1687C>G

2 papers

NM_014049.5

p.E564K

c.1690G>A

4 papers

NM_014049.5

p.R559S

c.1675C>A

2 papers

NM_014049.5

p.L558fs

c.1672_1673fs

1 paper

NM_014049.5

p.S551G

c.1651A>G

2 papers

NM_014049.5

p.R549Q

c.1646G>A

1 paper

NM_014049.5

p.A550_L558insFs

c.1650_1672dup23

4 papers

NM_014049.5

p.V546M

c.1636G>A

8 papers

NM_014049.5

p.V546L

c.1636G>C

8 papers

NM_014049.5

p.V546L

c.1636G>T

1 paper

NM_014049.5

p.T544M

c.1631C>T

1 paper

NM_014049.5

p.T544A

c.1630A>G