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

1–12 of 252 variants

17 papers

NM_005271.5

p.S498L

c.1493C>T

10 papers

NM_005271.5

p.R274C

c.820C>T

10 papers

NM_005271.5

p.R322H

c.965G>A

8 papers

NM_005271.5

p.H315Y

c.943C>T

7 papers

NM_005271.5

p.G499V

c.1496G>T

6 papers

NM_005271.5

p.H507Y

c.1519C>T

5 papers

NM_005271.5

p.A163G

c.488C>G

4 papers

NM_005271.5

p.S288C

c.863C>G

4 papers

NM_005271.5

p.F440L

c.1318T>C

4 papers

NM_005271.5

p.F440L

c.1320T>G

4 papers

NM_005271.5

p.F440L

c.1320T>A

4 papers

NM_005271.5

p.I497M

c.1491A>G