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

1 paper

NM_152740.4

p.M227V

c.679A>G

Surrounding Variants

1 paper

NM_152740.4

p.K209N

c.627G>T

1 paper

NM_152740.4

p.K209N

c.627G>C

2 papers

NM_152740.4

p.N195fs

c.583_584fs

2 papers

NM_152740.4

p.S194insFs

c.582dupC

1 paper

NM_152740.4

p.L189Q

c.566T>A

1 paper

NM_152740.4

p.R250W

c.748C>T

1 paper

NM_152740.4

p.Y257Y

c.771T>C