Varaico: Literature-Extracted Genetic Variants

GLUD1

247 papers

RefSeq Summary

This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important...

Pfam Domains

ELFV_dehydrog_Naa 112–242UCSCGlu/Leu/Phe/Val dehydrogenase, dimerisation domain

ELFV_dehydrogaa 263–465UCSCGlutamate/Leucine/Phenylalanine/Valine dehydrogenase

Gene Aliases

HGNC Name

glutamate dehydrogenase 1

HGNC Alias Symbols

GDH; GDH1; hGDH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_005271.5

p.H315Y

c.943C>T

Surrounding Variants

2 papers

NM_005271.5

p.L314L

c.942A>G

1 paper

NM_005271.5

p.G313D

c.938G>A

1 paper

NM_005271.5

p.R318I

c.953G>T

2 papers

NM_005271.5

p.R318T

c.953G>C

3 papers

NM_005271.5

p.R318K

c.953G>A

2 papers

NM_005271.5

p.Y319H

c.955T>C

2 papers

NM_005271.5

p.Y319C

c.956A>G

1 paper

NM_005271.5

p.G310A

c.929G>C

1 paper

NM_005271.5

p.Y319_L320del1

c.956_958delAAT

1 paper

NM_005271.5

p.F309C

c.926T>G

2 papers

NM_005271.5

p.R322C

c.964C>T

10 papers

NM_005271.5

p.R322H

c.965G>A