Varaico: Literature-Extracted Genetic Variants

Gene:GAD2
Variant:p.M204I

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
2 papers
NM_001134366.2
p.M204I
c.612G>A
Surrounding Variants
1 paper
NM_001134366.2
p.M204I
c.612G>C
1 paper
NM_001134366.2
p.M204I
c.612G>T
1 paper
NM_001134366.2
p.S198_T199delFs
c.592_595del4
1 paper
NM_001134366.2
p.V189V
c.567T>A
1 paper
NM_001134366.2
p.G185G
c.555T>C
1 paper
NM_001134366.2
p.G185D
c.554G>A
1 paper
NM_001134366.2
p.T184S
c.550A>T
1 paper
NM_001134366.2
p.L182I
c.544C>A
1 paper
NM_001134366.2
p.G174fs
c.520_521fs
1 paper
NM_001134366.2
p.M204I
c.612G>A
1 paper
NM_001134366.2
p.E208K
c.622G>A
1 paper
NM_001134366.2
p.E208insFs
c.623_624insT
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