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.Y512*

c.1536C>G

Surrounding Variants

1 paper

NM_005271.5

p.Y512*

c.1536C>A

2 papers

NM_005271.5

p.A511V

c.1532C>T

1 paper

NM_005271.5

p.M514T

c.1541T>C

3 papers

NM_005271.5

p.G509A

c.1526G>C

2 papers

NM_005271.5

p.H507R

c.1520A>G

6 papers

NM_005271.5

p.H507Y

c.1519C>T

2 papers

NM_005271.5

p.V506M

c.1516G>A

2 papers

NM_005271.5

p.I505T

c.1514T>C

2 papers

NM_005271.5

p.K503R

c.1508A>G

1 paper

NM_005271.5

p.K503Q

c.1507A>C

3 papers

NM_005271.5

p.S501P

c.1501T>C

2 papers

NM_005271.5

p.A500T

c.1498G>A