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

4 papers

NM_005896.4

p.N101Y

c.301A>T

Surrounding Variants

2 papers

NM_005896.4

p.N101D

c.301A>G

1 paper

NM_005896.4

p.N101S

c.302A>G

1 paper

NM_005896.4

p.R100L

c.299G>T

36 papers

NM_005896.4

p.R100Q

c.299G>A

7 papers

NM_005896.4

p.R100*

c.298C>T

1 paper

NM_005896.4

p.R100R

c.298C>A

1 paper

NM_005896.4

p.I102T

c.305T>C

30 papers

NM_005896.4

p.I99M

c.297A>G

1 paper

NM_005896.4

p.I99K

c.296T>A

1 paper

NM_005896.4

p.L103M

c.307C>A

1 paper

NM_005896.4

p.L103L

c.309G>A

1 paper

NM_005896.4

p.T98I

c.293C>T