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.E80Q

c.238G>C

Surrounding Variants

1 paper

NM_005896.4

p.E80K

c.238G>A

1 paper

NM_005896.4

p.I76_D79delFs

c.227_236del10

1 paper

NM_005896.4

p.E80A

c.239A>C

1 paper

NM_005896.4

p.D79V

c.236A>T

1 paper

NM_005896.4

p.K81Q

c.241A>C

1 paper

NM_005896.4

p.P78delFs

c.233delG

1 paper

NM_005896.4

p.K81R

c.242A>G

1 paper

NM_005896.4

p.K81N

c.243G>T

2 papers

NM_005896.4

p.K81N

c.243G>C

2 papers

NM_005896.4

p.P78L

c.233C>T

1 paper

NM_005896.4

p.P78R

c.233C>G

1 paper

NM_005896.4

p.P78fs

c.232_233fs