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.D186H

c.556G>C

Surrounding Variants

1 paper

NM_005896.4

p.D186N

c.556G>A

2 papers

NM_005896.4

p.Q185*

c.553C>T

2 papers

NM_005896.4

p.N184fs

c.550_551fs

1 paper

NM_005896.4

p.K187R

c.560A>G

1 paper

NM_005896.4

p.N184S

c.551A>G

1 paper

NM_005896.4

p.N184D

c.550A>G

1 paper

NM_005896.4

p.S188L

c.563C>T

1 paper

NM_005896.4

p.S188*

c.563C>G

26 papers

NM_005896.4

p.Y183C

c.548A>G

1 paper

NM_005896.4

p.G181_M182del2

c.541_545del6

1 paper

NM_005896.4

p.I189F

c.565A>T

7 papers

NM_005896.4

p.I189V

c.565A>G