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.L88F

c.264G>T

Surrounding Variants

1 paper

NM_005896.4

p.L88fs

c.262_263fs

1 paper

NM_005896.4

p.L88F

c.264G>C

1 paper

NM_005896.4

p.L88L

c.264G>A

1 paper

NM_005896.4

p.L88*

c.263T>A

1 paper

NM_005896.4

p.K89E

c.265A>G

1 paper

NM_005896.4

p.K89Q

c.265A>C

1 paper

NM_005896.4

p.K87N

c.261G>T

1 paper

NM_005896.4

p.K87N

c.261G>C

1 paper

NM_005896.4

p.K87K

c.261G>A

1 paper

NM_005896.4

p.K89N

c.267A>C

1 paper

NM_005896.4

p.Q90*

c.268C>T

1 paper

NM_005896.4

p.E85_F86del2

c.253_257del6