Varaico: Literature-Extracted Genetic Variants

Gene:GAD2
Variant:p.P153P

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.P153P
c.459A>G
Surrounding Variants
2 papers
NM_001134366.2
p.P153Q
c.458C>A
1 paper
NM_001134366.2
p.Q154_E158delFs
c.460_473del14
1 paper
NM_001134366.2
p.A150V
c.449C>T
1 paper
NM_001134366.2
p.E158delFs
c.474delA
1 paper
NM_001134366.2
p.M161fs
c.481_482fs
1 paper
NM_001134366.2
p.I133L
c.397A>C
1 paper
NM_001134366.2
p.G174V
c.521G>T
1 paper
NM_001134366.2
p.S125T
c.374G>C
1 paper
NM_001134366.2
p.V114A
c.341T>C
1 paper
NM_001134366.2
p.D113N
c.337G>A
1 paper
NM_001134366.2
p.D113Y
c.337G>T
1 paper
NM_001134366.2
p.L111M
c.331C>A
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."