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.M381V

c.1141A>G

Surrounding Variants

1 paper

NM_014049.5

p.A379V

c.1136C>T

1 paper

NM_014049.5

p.K383_V384insTAA

c.1147_1151ins9

4 papers

NM_014049.5

p.P370fs

c.1108_1109fs

3 papers

NM_014049.5

p.P370delFs

c.1109delC

1 paper

NM_014049.5

p.E357K

c.1069G>A

1 paper

NM_014049.5

p.V355I

c.1063G>A

1 paper

NM_014049.5

p.Y354C

c.1061A>G

4 papers

NM_014049.5

p.Q343_E344Splc

c.1030-1G>T

1 paper

NM_014049.5

p.Q343insFs

c.1029dupG

1 paper

NM_014049.5

p.Q343fs

c.1027_1028fs

1 paper

NM_014049.5

p.L341S

c.1022T>C

2 papers

NM_014049.5

p.F339V

c.1015T>G