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

1 paper

NM_005271.5

p.S336N

c.1007G>A

Surrounding Variants

1 paper

NM_005271.5

p.I337V

c.1009A>G

1 paper

NM_005271.5

p.D334E

c.1002T>G

1 paper

NM_005271.5

p.D334E

c.1002T>A

1 paper

NM_005271.5

p.P345S

c.1033C>T

1 paper

NM_005271.5

p.D344delFs

c.1032delG

1 paper

NM_005271.5

p.E349K

c.1045G>A

1 paper

NM_005271.5

p.E349A

c.1046A>C

10 papers

NM_005271.5

p.R322H

c.965G>A

2 papers

NM_005271.5

p.R322C

c.964C>T

1 paper

NM_005271.5

p.Y319_L320del1

c.956_958delAAT

1 paper

NM_005271.5

p.K352T

c.1055A>C

2 papers

NM_005271.5

p.Y319C

c.956A>G