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

18 papers

NM_014049.5

p.R414C

c.1240C>T

Surrounding Variants

4 papers

NM_014049.5

p.R414S

c.1240C>A

1 paper

NM_014049.5

p.R414H

c.1241G>A

22 papers

NM_014049.5

p.E413K

c.1237G>A

12 papers

NM_014049.5

p.R417C

c.1249C>T

1 paper

NM_014049.5

p.D418A

c.1253A>C

5 papers

NM_014049.5

p.D418G

c.1253A>G

3 papers

NM_014049.5

p.R420C

c.1258C>T

1 paper

NM_014049.5

p.R420H

c.1259G>A

1 paper

NM_014049.5

p.L404W

c.1211T>G

1 paper

NM_014049.5

p.G402R

c.1204G>A

2 papers

NM_014049.5

p.E426Q

c.1276G>C

1 paper

NM_014049.5

p.G402R

c.1204G>C