Varaico: Literature-Extracted Genetic Variants

IVD

269 papers

RefSeq Summary

Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, wh...

Pfam Domains

Acyl-CoA_dh_Naa 46–160UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 131–228UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_Maa 164–261UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 240–388UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

isovaleryl-CoA dehydrogenase

HGNC Alias Symbols

ACAD2; IVDH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002225.5

p.P34_V35ins1

c.102_103insGAG

Surrounding Variants

1 paper

NM_002225.5

p.A29T

c.85G>A

1 paper

NM_002225.5

p.A29insFs

c.85_86insTT

1 paper

NM_002225.5

p.Q27K

c.79C>A

1 paper

NM_002225.5

p.Q27*

c.79C>T

4 papers

NM_002225.5

p.L42P

c.125T>C

1 paper

NM_002225.5

p.L42R

c.125T>G

1 paper

NM_002225.5

p.L42L

c.126A>T

1 paper

NM_002225.5

p.E44delFs

c.131_132delAG

2 papers

NM_002225.5

p.Q46*

c.136C>T

1 paper

NM_002225.5

p.G23A

c.68G>C

1 paper

NM_002225.5

p.R47K

c.140G>A

2 papers

NM_002225.5

p.Q48_L49Splc

c.144+1G>T