Varaico: Literature-Extracted Genetic Variants

IDH3G

41 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 56–379UCSCIsocitrate/isopropylmalate dehydrogenase

Gene Aliases

HGNC Name

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

HGNC Previous Names

isocitrate dehydrogenase 3 (NAD+) gamma; isocitrate dehydrogenase (NAD(+)) 3 gamma

Papers

RefSeq ID

Protein change

DNA change

1–12 of 37 variants

2 papers

NM_004135.4

p.R213C

c.637C>T

1 paper

NM_004135.4

p.M1V

c.1A>G

1 paper

NM_004135.4

p.V8delFs

c.23delA

1 paper

NM_004135.4

p.S11C

c.31A>T

1 paper

NM_004135.4

p.C23Y

c.68G>A

1 paper

NM_004135.4

p.E27V

c.80A>T

1 paper

NM_004135.4

p.A31T

c.91G>A

1 paper

NM_004135.4

p.S36L

c.107C>T

1 paper

NM_004135.4

p.P47A

c.139C>G

1 paper

NM_004135.4

p.T56M

c.167C>T

1 paper

NM_004135.4

p.A80T

c.238G>A

1 paper

NM_004135.4

p.H90R

c.269A>G