Varaico: Literature-Extracted Genetic Variants

Gene:GAD2
Variant:p.G59S

GAD2

175 papers

RefSeq Summary

This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production ...

Pfam Domains

Pyridoxal_deCaa 138–509UCSCPyridoxal-dependent decarboxylase conserved domain

Gene Aliases

HGNC Name

glutamate decarboxylase 2

HGNC Alias Symbol

GAD65

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001134366.2
p.G59S
c.175G>A
Surrounding Variants
1 paper
NM_001134366.2
p.Q62*
c.184C>T
1 paper
NM_001134366.2
p.P63T
c.187C>A
1 paper
NM_001134366.2
p.D51D
c.153C>T
1 paper
NM_001134366.2
p.C75C
c.225C>T
1 paper
NM_001134366.2
p.P79P
c.237C>T
2 papers
NM_001134366.2
p.L92F
c.274C>T
1 paper
NM_001134366.2
p.H93_A94insT
c.277_281ins3
1 paper
NM_001134366.2
p.T95A
c.283A>G
1 paper
NM_001134366.2
p.T95S
c.283A>T
1 paper
NM_001134366.2
p.D96Splc
c.286+17G>C
1 paper
NM_001134366.2
p.A46Splc
c.136+22C>T
1 paper
NM_001134366.2
p.A46Splc
c.136+1G>A
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