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

1 paper

NM_005896.4

p.Q228E

c.682C>G

Surrounding Variants

2 papers

NM_005896.4

p.Q228*

c.682C>T

1 paper

NM_005896.4

p.Q228R

c.683A>G

1 paper

NM_005896.4

p.F227S

c.680T>C

7 papers

NM_005896.4

p.E229K

c.685G>A

4 papers

NM_005896.4

p.Y231H

c.691T>C

1 paper

NM_005896.4

p.D225H

c.673G>C

1 paper

NM_005896.4

p.Y231F

c.692A>T

1 paper

NM_005896.4

p.K224N

c.672A>T

1 paper

NM_005896.4

p.Y231C

c.692A>G

2 papers

NM_005896.4

p.K224R

c.671A>G

1 paper

NM_005896.4

p.K224T

c.671A>C

2 papers

NM_005896.4

p.K224Q

c.670A>C