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.A227V

c.680C>T

Surrounding Variants

1 paper

NM_014049.5

p.V225_V231del0

c.675_692del18

1 paper

NM_014049.5

p.T224I

c.671C>T

1 paper

NM_014049.5

p.I222N

c.665T>A

1 paper

NM_014049.5

p.I222T

c.665T>C

6 papers

NM_014049.5

p.A220V

c.659C>T

2 papers

NM_014049.5

p.S234F

c.701C>T

1 paper

NM_014049.5

p.K211_V212Splc

c.634-1G>T

3 papers

NM_014049.5

p.T243R

c.728C>G

2 papers

NM_014049.5

p.I246T

c.737T>C

2 papers

NM_014049.5

p.T255I

c.764C>T

2 papers

NM_014049.5

p.G257R

c.769G>A

2 papers

NM_014049.5

p.G257R

c.769G>C