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.F108L

c.324C>A

Surrounding Variants

1 paper

NM_005896.4

p.F108L

c.324C>G

1 paper

NM_005896.4

p.R109G

c.325A>G

1 paper

NM_005896.4

p.F108V

c.322T>G

1 paper

NM_005896.4

p.F108L

c.322T>C

2 papers

NM_005896.4

p.R109I

c.326G>T

5 papers

NM_005896.4

p.R109K

c.326G>A

1 paper

NM_005896.4

p.T106_V107delFs

c.316_319del4

2 papers

NM_005896.4

p.E110K

c.328G>A

1 paper

NM_005896.4

p.T106fs

c.316_317fs

1 paper

NM_005896.4

p.T106T

c.318G>C

1 paper

NM_005896.4

p.A111P

c.331G>C

1 paper

NM_005896.4

p.A111T

c.331G>A