Varaico: Literature-Extracted Genetic Variants

GLUD2

90 papers

RefSeq Summary

The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamin...

Pfam Domains

ELFV_dehydrog_Naa 112–242UCSCGlu/Leu/Phe/Val dehydrogenase, dimerisation domain

ELFV_dehydrogaa 263–463UCSCGlutamate/Leucine/Phenylalanine/Valine dehydrogenase

Gene Aliases

HGNC Name

glutamate dehydrogenase 2

HGNC Previous Symbol

GLUDP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012084.4

p.N196K

c.588T>G

Surrounding Variants

1 paper

NM_012084.4

p.N196K

c.588T>A

1 paper

NM_012084.4

p.E197Q

c.589G>C

2 papers

NM_012084.4

p.T194T

c.582C>T

1 paper

NM_012084.4

p.G185A

c.554G>C

1 paper

NM_012084.4

p.A182V

c.545C>T

1 paper

NM_012084.4

p.V219I

c.655G>A

1 paper

NM_012084.4

p.V219F

c.655G>T

1 paper

NM_012084.4

p.Y170C

c.509A>G

1 paper

NM_012084.4

p.T239A

c.715A>G

1 paper

NM_012084.4

p.T154P

c.460A>C

1 paper

NM_012084.4

p.T154A

c.460A>G

1 paper

NM_012084.4

p.G149V

c.446G>T