Varaico: Literature-Extracted Genetic Variants

IDH1

4,356 papers

RefSeq Summary

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor...

Pfam Domains

Iso_dhaa 9–401UCSCIsocitrate/isopropylmalate dehydrogenase

Gene Aliases

HGNC Name

isocitrate dehydrogenase (NADP(+)) 1

HGNC Previous Names

isocitrate dehydrogenase 1 (NADP+), soluble; isocitrate dehydrogenase 1 (NADP+); isocitrate dehydrogenase (NADP(+)) 1, cytosolic

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005896.4

p.A134T

c.400G>A

Surrounding Variants

1 paper

NM_005896.4

p.A134S

c.400G>T

1 paper

NM_005896.4

p.A134P

c.400G>C

10 papers

NM_005896.4

p.H133Q

c.399T>G

10 papers

NM_005896.4

p.H133Q

c.399T>A

2 papers

NM_005896.4

p.A134V

c.401C>T

1 paper

NM_005896.4

p.A134G

c.401C>G

14 papers

NM_005896.4

p.A134D

c.401C>A

2 papers

NM_005896.4

p.H133R

c.398A>G

1 paper

NM_005896.4

p.H133P

c.398A>C

1 paper

NM_005896.4

p.G131_R132delins

c.392_396delinsTCCTG

3 papers

NM_005896.4

p.Y135F

c.404A>T

1 paper

NM_005896.4

p.Y135*

c.405T>G