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.T211T

c.633C>G

Surrounding Variants

3 papers

NM_005896.4

p.T211I

c.632C>T

1 paper

NM_005896.4

p.K212*

c.634A>T

3 papers

NM_005896.4

p.K212Q

c.634A>C

1 paper

NM_005896.4

p.K212R

c.635A>G

1 paper

NM_005896.4

p.K212N

c.636A>T

1 paper

NM_005896.4

p.K212N

c.636A>C

2 papers

NM_005896.4

p.S210T

c.629G>C

2 papers

NM_005896.4

p.S210N

c.629G>A

1 paper

NM_005896.4

p.N213fs

c.637_638fs

1 paper

NM_005896.4

p.N213Y

c.637A>T

1 paper

NM_005896.4

p.N213D

c.637A>G

2 papers

NM_005896.4

p.S210G

c.628A>G