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.N499D

c.1495A>G

Surrounding Variants

1 paper

NM_014049.5

p.N499S

c.1496A>G

2 papers

NM_014049.5

p.G509S

c.1525G>A

1 paper

NM_014049.5

p.R518fs

c.1552_1553fs

14 papers

NM_014049.5

p.R518C

c.1552C>T

17 papers

NM_014049.5

p.R518H

c.1553G>A

1 paper

NM_014049.5

p.F519S

c.1556T>C

1 paper

NM_014049.5

p.K521R

c.1562A>G

2 papers

NM_014049.5

p.K521_T522Splc

c.1563+1G>A

1 paper

NM_014049.5

p.A495insFs

c.1483dupG

1 paper

NM_014049.5

p.L494fs

c.1480_1481fs

3 papers

NM_014049.5

p.P492P

c.1476C>T

1 paper

NM_014049.5

p.P492S

c.1474C>T