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.V121L

c.361G>C

Surrounding Variants

1 paper

NM_005896.4

p.V121L

c.361G>T

1 paper

NM_005896.4

p.V121M

c.361G>A

1 paper

NM_005896.4

p.V121A

c.362T>C

2 papers

NM_005896.4

p.L120V

c.358C>G

1 paper

NM_005896.4

p.L120I

c.358C>A

1 paper

NM_005896.4

p.R119fs

c.355_356fs

3 papers

NM_005896.4

p.S122N

c.365G>A

1 paper

NM_005896.4

p.R119L

c.356G>T

1 paper

NM_005896.4

p.R119insFs

c.355dupC

5 papers

NM_005896.4

p.R119P

c.356G>C

16 papers

NM_005896.4

p.R119Q

c.356G>A

1 paper

NM_005896.4

p.I117delFs

c.351delG