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.A495insFs

c.1483dupG

Surrounding Variants

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

1 paper

NM_014049.5

p.V490M

c.1468G>A

1 paper

NM_014049.5

p.V489A

c.1466T>C

1 paper

NM_014049.5

p.L483R

c.1448T>G

3 papers

NM_014049.5

p.R477Q

c.1430G>A

1 paper

NM_014049.5

p.L475L

c.1425G>C

1 paper

NM_014049.5

p.R472Q

c.1415G>A

1 paper

NM_014049.5

p.R472W

c.1414C>T

12 papers

NM_014049.5

p.R469W

c.1405C>T

3 papers

NM_014049.5

p.K459_S461delins

c.1376_1381delinsCCT