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.C254R

c.760T>C

Surrounding Variants

1 paper

NM_005271.5

p.A251P

c.751G>C

1 paper

NM_005271.5

p.G257V

c.770G>T

1 paper

NM_005271.5

p.H266R

c.797A>G

1 paper

NM_005271.5

p.G267A

c.800G>C

2 papers

NM_005271.5

p.S270C

c.809C>G

1 paper

NM_005271.5

p.Y247_D248Splc

c.742-34G>A

10 papers

NM_005271.5

p.R274C

c.820C>T

1 paper

NM_005271.5

p.H278Y

c.832C>T

1 paper

NM_005271.5

p.I284del1

c.850_851delGAT

4 papers

NM_005271.5

p.S288C

c.863C>G

1 paper

NM_005271.5

p.Y289H

c.865T>C

1 paper

NM_005271.5

p.F299L

c.895T>C