Varaico: Literature-Extracted Genetic Variants

Gene:GAD2

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
1–12 of 183 variants
4 papers
NM_001134366.2
p.I228T
c.683T>C
2 papers
NM_001134366.2
p.M1V
c.1A>G
2 papers
NM_001134366.2
p.G12G
c.36G>C
2 papers
NM_001134366.2
p.L92F
c.274C>T
2 papers
NM_001134366.2
p.P106P
c.318C>T
2 papers
NM_001134366.2
p.P153Q
c.458C>A
2 papers
NM_001134366.2
p.M204I
c.612G>A
2 papers
NM_001134366.2
p.V340M
c.1018G>A
2 papers
NM_001134366.2
p.R375Q
c.1124G>A
2 papers
NM_001134366.2
p.K396R
c.1187A>G
2 papers
NM_001134366.2
p.M415I
c.1245G>A
2 papers
NM_001134366.2
p.M415I
c.1245G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."