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

440 papers

NM_005896.4

p.R132L

c.395G>T

Surrounding Variants

36 papers

NM_005896.4

p.R132P

c.395G>C

2815 papers

NM_005896.4

p.R132H

c.395G>A

1 paper

NM_005896.4

p.R132delins

c.394_395delinsTT

1 paper

NM_005896.4

p.R132delins

c.394_395delinsGT

1 paper

NM_005896.4

p.R132delins

c.394_395delinsAT

1 paper

NM_005896.4

p.R132delins

c.394_395delinsTC

1 paper

NM_005896.4

p.G131_R132delins

c.392_396delinsTCCTG

1410 papers

NM_005896.4

p.R132C

c.394C>T

615 papers

NM_005896.4

p.R132G

c.394C>G

565 papers

NM_005896.4

p.R132S

c.394C>A

2 papers

NM_005896.4

p.G131_R132delins

c.393_394delinsCT

1 paper

NM_005896.4

p.G131delFs

c.392delC