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

23 papers

NM_014049.5

p.R532W

c.1594C>T

Surrounding Variants

1 paper

NM_014049.5

p.V533delFs

c.1597delG

2 papers

NM_014049.5

p.R532Q

c.1595G>A

1 paper

NM_014049.5

p.R532L

c.1595G>T

1 paper

NM_014049.5

p.I538N

c.1613T>A

1 paper

NM_014049.5

p.M524T

c.1571T>C

1 paper

NM_014049.5

p.L540P

c.1619T>C

1 paper

NM_014049.5

p.M543R

c.1628T>G

1 paper

NM_014049.5

p.T544A

c.1630A>G

1 paper

NM_014049.5

p.T544M

c.1631C>T

1 paper

NM_014049.5

p.K521_T522Splc

c.1564-11T>G

4 papers

NM_014049.5

p.V546M

c.1636G>A

8 papers

NM_014049.5

p.V546L

c.1636G>C