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.D191N

c.571G>A

Surrounding Variants

1 paper

NM_005896.4

p.S188_E190del3

c.562_569del9

3 papers

NM_005896.4

p.D191A

c.572A>C

3 papers

NM_005896.4

p.E190K

c.568G>A

1 paper

NM_005896.4

p.I189I

c.567T>C

1 paper

NM_005896.4

p.A193S

c.577G>T

2 papers

NM_005896.4

p.A193T

c.577G>A

1 paper

NM_005896.4

p.I189F

c.565A>T

7 papers

NM_005896.4

p.I189V

c.565A>G

1 paper

NM_005896.4

p.S188L

c.563C>T

1 paper

NM_005896.4

p.S188*

c.563C>G

1 paper

NM_005896.4

p.A193fs

c.577_578fs

1 paper

NM_005896.4

p.H194N

c.580C>A