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.G149V

c.446G>T

Surrounding Variants

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.S140R

c.420C>A

1 paper

NM_012084.4

p.S140R

c.420C>G

1 paper

NM_012084.4

p.S140R

c.418A>C

3 papers

NM_012084.4

p.Q138*

c.412C>T

1 paper

NM_012084.4

p.A137T

c.409G>A

1 paper

NM_012084.4

p.Y170C

c.509A>G

1 paper

NM_012084.4

p.R124H

c.371G>A

1 paper

NM_012084.4

p.P121R

c.362C>G

1 paper

NM_012084.4

p.P121S

c.361C>T

1 paper

NM_012084.4

p.S119C

c.356C>G