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

4 papers

NM_005271.5

p.F440L

c.1320T>G

Surrounding Variants

4 papers

NM_005271.5

p.F440L

c.1320T>A

4 papers

NM_005271.5

p.F440L

c.1318T>C

1 paper

NM_005271.5

p.L446I

c.1336C>A

1 paper

NM_005271.5

p.L446Q

c.1337T>A

1 paper

NM_005271.5

p.H448Y

c.1342C>T

1 paper

NM_005271.5

p.S450I

c.1349G>T

2 papers

NM_005271.5

p.Y429C

c.1286A>G

1 paper

NM_005271.5

p.G452A

c.1355G>C

1 paper

NM_005271.5

p.T455ins1

c.1363_1364insCGG

1 paper

NM_005271.5

p.P426_D427Splc

c.1279-4A>G

1 paper

NM_005271.5

p.Y458S

c.1373A>C

1 paper

NM_005271.5

p.N463Y

c.1387A>T