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

2 papers

NM_005896.4

p.K65*

c.193A>T

Surrounding Variants

1 paper

NM_005896.4

p.K65M

c.194A>T

1 paper

NM_005896.4

p.A63_I64del1

c.188_190delTAG

1 paper

NM_005896.4

p.I64L

c.190A>T

1 paper

NM_005896.4

p.I64V

c.190A>G

1 paper

NM_005896.4

p.I64L

c.190A>C

2 papers

NM_005896.4

p.K66insFs

c.196_197insG

1 paper

NM_005896.4

p.A63V

c.188C>T

1 paper

NM_005896.4

p.A63S

c.187G>T

3 papers

NM_005896.4

p.A63T

c.187G>A

1 paper

NM_005896.4

p.K65_K66del2

c.193_197del6

2 papers

NM_005896.4

p.A61A

c.183A>T

4 papers

NM_005896.4

p.A61A

c.183A>C