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.P381S

c.1141C>T

Surrounding Variants

1 paper

NM_005271.5

p.A382P

c.1144G>C

2 papers

NM_005271.5

p.S384T

c.1151G>C

1 paper

NM_005271.5

p.A374V

c.1121C>T

1 paper

NM_005271.5

p.I371_L372insFs

c.1113_1114insT

1 paper

NM_005271.5

p.S370C

c.1108A>T

1 paper

NM_005271.5

p.G369R

c.1105G>A

1 paper

NM_005271.5

p.A398D

c.1193C>A

1 paper

NM_005271.5

p.K399M

c.1196A>T

1 paper

NM_005271.5

p.K399R

c.1196A>G

1 paper

NM_005271.5

p.I358L

c.1072A>C

1 paper

NM_005271.5

p.Q354E

c.1060C>G

1 paper

NM_005271.5

p.K399_I400Splc

c.1197+48G>A