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.R476T

c.1427G>C

Surrounding Variants

1 paper

NM_012084.4

p.G479V

c.1436G>T

1 paper

NM_012084.4

p.E472*

c.1414G>T

2 papers

NM_012084.4

p.H481R

c.1442A>G

3 papers

NM_012084.4

p.L468M

c.1402C>A

1 paper

NM_012084.4

p.H465H

c.1395C>T

1 paper

NM_012084.4

p.R460K

c.1379G>A

2 papers

NM_012084.4

p.E492D

c.1476G>C

2 papers

NM_012084.4

p.E492D

c.1476G>T

2 papers

NM_012084.4

p.Q494R

c.1481A>G

1 paper

NM_012084.4

p.K457K

c.1371A>G

1 paper

NM_012084.4

p.D495G

c.1484A>G

2 papers

NM_012084.4

p.S496R

c.1486A>C