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

2 papers

NM_002225.5

p.F418L

c.1254C>G

Surrounding Variants

2 papers

NM_002225.5

p.F418L

c.1254C>A

1 paper

NM_002225.5

p.F418Y

c.1253T>A

2 papers

NM_002225.5

p.F418L

c.1252T>C

1 paper

NM_002225.5

p.F418V

c.1252T>G

1 paper

NM_002225.5

p.A420_D421insFs

c.1260_1263dup4

1 paper

NM_002225.5

p.G415S

c.1243G>A

1 paper

NM_002225.5

p.L412L

c.1236G>A

3 papers

NM_002225.5

p.R411Q

c.1232G>A

2 papers

NM_002225.5

p.R411W

c.1231C>T

1 paper

NM_002225.5

p.E408A

c.1223A>C

5 papers

NM_002225.5

p.E408K

c.1222G>A

1 paper

NM_002225.5

p.E408*

c.1222G>T