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

2 papers

NM_012084.4

p.I358L

c.1072A>C

Surrounding Variants

1 paper

NM_012084.4

p.H355Y

c.1063C>T

1 paper

NM_012084.4

p.K352T

c.1055A>C

2 papers

NM_012084.4

p.K352R

c.1055A>G

1 paper

NM_012084.4

p.V374I

c.1120G>A

1 paper

NM_012084.4

p.W338R

c.1012T>A

1 paper

NM_012084.4

p.W338R

c.1012T>C

1 paper

NM_012084.4

p.S336N

c.1007G>A

1 paper

NM_012084.4

p.A382P

c.1144G>C

1 paper

NM_012084.4

p.D334Y

c.1000G>T

1 paper

NM_012084.4

p.A329V

c.986C>T

1 paper

NM_012084.4

p.I328V

c.982A>G

1 paper

NM_012084.4

p.R395K

c.1184G>A