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.I113L

c.337A>C

Surrounding Variants

1 paper

NM_005896.4

p.I113V

c.337A>G

2 papers

NM_005896.4

p.I113S

c.338T>G

6 papers

NM_005896.4

p.I113T

c.338T>C

1 paper

NM_005896.4

p.I112T

c.335T>C

1 paper

NM_005896.4

p.C114S

c.340T>A

1 paper

NM_005896.4

p.I112F

c.334A>T

1 paper

NM_005896.4

p.I112L

c.334A>C

2 papers

NM_005896.4

p.C114F

c.341G>T

1 paper

NM_005896.4

p.C114S

c.341G>C

2 papers

NM_005896.4

p.A111V

c.332C>T

1 paper

NM_005896.4

p.C114W

c.342C>G

1 paper

NM_005896.4

p.C114_K115insFs

c.342_343insA