Varaico: Literature-Extracted Genetic Variants

Gene:GAD2
Variant:p.K358N

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.K358N
c.1074G>T
Surrounding Variants
1 paper
NM_001134366.2
p.K358N
c.1074G>C
1 paper
NM_001134366.2
p.K358E
c.1072A>G
1 paper
NM_001134366.2
p.K356N
c.1068G>C
1 paper
NM_001134366.2
p.K356N
c.1068G>T
1 paper
NM_001134366.2
p.K355E
c.1063A>G
1 paper
NM_001134366.2
p.I353insFs
c.1059dupT
1 paper
NM_001134366.2
p.P346R
c.1037C>G
2 papers
NM_001134366.2
p.V340M
c.1018G>A
1 paper
NM_001134366.2
p.T339I
c.1016C>T
1 paper
NM_001134366.2
p.S333N
c.998G>A
1 paper
NM_001134366.2
p.S333I
c.998G>T
1 paper
NM_001134366.2
p.S333G
c.997A>G
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