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

7 papers

NM_002225.5

p.M1Fs

c.2delinsGGFs

Surrounding Variants

3 papers

NM_002225.5

p.M1T

c.2T>C

1 paper

NM_002225.5

p.M1R

c.2T>G

2 papers

NM_002225.5

p.M1V

c.1A>G

1 paper

NM_002225.5

p.M1I

c.3G>A

1 paper

NM_002225.5

p.M1I

c.3G>C

1 paper

NM_002225.5

p.M1_A2insFs

c.3_4insCT

1 paper

NM_002225.5

p.M1I

c.3G>T

1 paper

NM_002225.5

p.M1_T3del3

c.1_8del9

1 paper

NM_002225.5

p.M1del1

c.1_3delATG

1 paper

NM_002225.5

p.A2V

c.5C>T

1 paper

NM_002225.5

p.A4del1

c.10_12delGCG

6 papers

NM_002225.5

p.A4A

c.12G>A