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

2 papers

NM_005896.4

p.K81N

c.243G>C

Surrounding Variants

1 paper

NM_005896.4

p.K81N

c.243G>T

1 paper

NM_005896.4

p.K81R

c.242A>G

2 papers

NM_005896.4

p.R82M

c.245G>T

2 papers

NM_005896.4

p.R82T

c.245G>C

9 papers

NM_005896.4

p.R82K

c.245G>A

1 paper

NM_005896.4

p.K81Q

c.241A>C

2 papers

NM_005896.4

p.R82S

c.246G>T

2 papers

NM_005896.4

p.R82S

c.246G>C

2 papers

NM_005896.4

p.V83F

c.247G>T

1 paper

NM_005896.4

p.E80A

c.239A>C

1 paper

NM_005896.4

p.V83D

c.248T>A

1 paper

NM_005896.4

p.V83delFs

c.247delC