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.G149Splc

c.446-23C>T

Surrounding Variants

2 papers

NM_005271.5

p.G149A

c.446G>C

1 paper

NM_005271.5

p.G149D

c.446G>A

1 paper

NM_005271.5

p.R151H

c.452G>A

1 paper

NM_005271.5

p.T154P

c.460A>C

1 paper

NM_005271.5

p.V156V

c.468G>A

1 paper

NM_005271.5

p.V158A

c.473T>C

5 papers

NM_005271.5

p.A163G

c.488C>G

1 paper

NM_005271.5

p.Y170C

c.509A>G

1 paper

NM_005271.5

p.V175D

c.524T>A

1 paper

NM_005271.5

p.D176Splc

c.527-2A>T

1 paper

NM_005271.5

p.D176A

c.527A>C

1 paper

NM_005271.5

p.G181R

c.541G>C