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

4 papers

NM_012084.4

p.G35R

c.103G>C

Surrounding Variants

6 papers

NM_012084.4

p.G35R

c.103G>A

1 paper

NM_012084.4

p.R34C

c.100C>T

1 paper

NM_012084.4

p.R32R

c.94C>A

1 paper

NM_012084.4

p.S41S

c.123G>T

1 paper

NM_012084.4

p.P43P

c.129G>T

1 paper

NM_012084.4

p.H25Q

c.75C>A

1 paper

NM_012084.4

p.H25Q

c.75C>G

1 paper

NM_012084.4

p.L47L

c.139T>C

1 paper

NM_012084.4

p.R51H

c.152G>A

1 paper

NM_012084.4

p.S12P

c.34T>C

1 paper

NM_012084.4

p.P11T

c.31C>A

1 paper

NM_012084.4

p.E61K

c.181G>A