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

1–12 of 103 variants

27 papers

NM_012084.4

p.S498A

c.1492T>G

6 papers

NM_012084.4

p.G35R

c.103G>A

4 papers

NM_012084.4

p.G35R

c.103G>C

3 papers

NM_012084.4

p.Q138*

c.412C>T

3 papers

NM_012084.4

p.L468M

c.1402C>A

2 papers

NM_012084.4

p.T194T

c.582C>T

2 papers

NM_012084.4

p.K352R

c.1055A>G

2 papers

NM_012084.4

p.I358L

c.1072A>C

2 papers

NM_012084.4

p.K415R

c.1244A>G

2 papers

NM_012084.4

p.L418Q

c.1253T>A

2 papers

NM_012084.4

p.H481R

c.1442A>G

2 papers

NM_012084.4

p.E492D

c.1476G>C