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.I117insFs

c.349_350insC

Surrounding Variants

2 papers

NM_005896.4

p.I117fs

c.349_350fs

1 paper

NM_005896.4

p.I117insFs

c.350_351insC

2 papers

NM_005896.4

p.N116fs

c.346_347fs

1 paper

NM_005896.4

p.N116insFs

c.347dupA

1 paper

NM_005896.4

p.N116K

c.348T>G

2 papers

NM_005896.4

p.I117T

c.350T>C

1 paper

NM_005896.4

p.N116K

c.348T>A

2 papers

NM_005896.4

p.N116delFs

c.347delT

1 paper

NM_005896.4

p.I117fs

c.349_350fs

1 paper

NM_005896.4

p.I117delFs

c.350delA

1 paper

NM_005896.4

p.N116I

c.347A>T

3 papers

NM_005896.4

p.N116S

c.347A>G