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

17 papers

NM_005271.5

p.S498L

c.1493C>T

Surrounding Variants

1 paper

NM_005271.5

p.S498A

c.1492T>G

4 papers

NM_005271.5

p.I497M

c.1491A>G

1 paper

NM_005271.5

p.I497T

c.1490T>C

3 papers

NM_005271.5

p.R496S

c.1488G>T

3 papers

NM_005271.5

p.R496S

c.1488G>C

1 paper

NM_005271.5

p.R496W

c.1486A>T

1 paper

NM_005271.5

p.D495G

c.1484A>G

1 paper

NM_005271.5

p.Q494Q

c.1482A>G

2 papers

NM_005271.5

p.Q494R

c.1481A>G

1 paper

NM_005271.5

p.F493F

c.1479C>T

1 paper

NM_005271.5

p.E492D

c.1476G>T

1 paper

NM_005271.5

p.E492D

c.1476G>C