Varaico: Literature-Extracted Genetic Variants

Gene:GAD2
Variant:p.G370A

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.G370A
c.1109G>C
Surrounding Variants
1 paper
NM_001134366.2
p.G370R
c.1108G>A
1 paper
NM_001134366.2
p.G370R
c.1108G>C
2 papers
NM_001134366.2
p.R375Q
c.1124G>A
1 paper
NM_001134366.2
p.K380N
c.1140A>C
1 paper
NM_001134366.2
p.E385K
c.1153G>A
1 paper
NM_001134366.2
p.R386G
c.1156A>G
1 paper
NM_001134366.2
p.K358N
c.1074G>C
1 paper
NM_001134366.2
p.K358N
c.1074G>T
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
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