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.L201P

c.602T>C

Surrounding Variants

1 paper

NM_005896.4

p.L201fs

c.601_602fs

2 papers

NM_005896.4

p.L201L

c.601C>T

1 paper

NM_005896.4

p.L201M

c.601C>A

1 paper

NM_005896.4

p.S202F

c.605C>T

1 paper

NM_005896.4

p.A200insFs

c.599_600insT

1 paper

NM_005896.4

p.S202fs

c.604_605fs

1 paper

NM_005896.4

p.A200S

c.598G>T

1 paper

NM_005896.4

p.M199del1

c.595_596delCAT

1 paper

NM_005896.4

p.K203E

c.607A>G

1 paper

NM_005896.4

p.Q198_M199ins0

c.593_595dupAAA

1 paper

NM_005896.4

p.K203N

c.609G>T

1 paper

NM_005896.4

p.K203N

c.609G>C