Varaico: Literature-Extracted Genetic Variants

HIBADH

28 papers

RefSeq Summary

This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate...

Pfam Domains

NAD_binding_2aa 41–200UCSCNAD binding domain of 6-phosphogluconate dehydrogenase

NAD_binding_11aa 203–330UCSCNAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase

Gene Aliases

HGNC Name

3-hydroxyisobutyrate dehydrogenase

HGNC Alias Symbol

NS5ATP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_152740.4

p.P72H

c.215C>A

Surrounding Variants

1 paper

NM_152740.4

p.E77Q

c.229G>C

1 paper

NM_152740.4

p.P53Q

c.158C>A

1 paper

NM_152740.4

p.G51E

c.152G>A

1 paper

NM_152740.4

p.G46A

c.137G>C

2 papers

NM_152740.4

p.R34M

c.101G>T

1 paper

NM_152740.4

p.C32*

c.96T>A