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.W92R

c.274T>C

Surrounding Variants

2 papers

NM_005896.4

p.W92G

c.274T>G

4 papers

NM_005896.4

p.W92R

c.274T>A

1 paper

NM_005896.4

p.W92L

c.275G>T

1 paper

NM_005896.4

p.M91I

c.273G>T

1 paper

NM_005896.4

p.M91fs

c.271_272fs

1 paper

NM_005896.4

p.M91I

c.273G>C

1 paper

NM_005896.4

p.M91I

c.273G>A

1 paper

NM_005896.4

p.M91R

c.272T>G

1 paper

NM_005896.4

p.M91T

c.272T>C

1 paper

NM_005896.4

p.K93insFs

c.278_279ins8

2 papers

NM_005896.4

p.K93N

c.279A>T

4 papers

NM_005896.4

p.S94A

c.280T>G