Varaico: Literature-Extracted Genetic Variants

Gene:GAD2
Variant:p.M1I

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.M1I
c.3G>C
Surrounding Variants
1 paper
NM_001134366.2
p.M1I
c.3G>A
1 paper
NM_001134366.2
p.M1I
c.3G>T
2 papers
NM_001134366.2
p.M1V
c.1A>G
1 paper
NM_001134366.2
p.W9R
c.25T>A
1 paper
NM_001134366.2
p.W9R
c.25T>C
2 papers
NM_001134366.2
p.G12G
c.36G>C
1 paper
NM_001134366.2
p.E14*
c.40G>T
1 paper
NM_001134366.2
p.D15E
c.45T>G
1 paper
NM_001134366.2
p.A26Splc
c.76+3A>T
1 paper
NM_001134366.2
p.R27Q
c.80G>A
1 paper
NM_001134366.2
p.Q31E
c.91C>G
1 paper
NM_001134366.2
p.Q31_V32insFs
c.93_94insT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."