Varaico: Literature-Extracted Genetic Variants

Gene:GAD2
Variant:p.L111M

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.L111M
c.331C>A
Surrounding Variants
1 paper
NM_001134366.2
p.L111V
c.331C>G
1 paper
NM_001134366.2
p.A109E
c.326C>A
1 paper
NM_001134366.2
p.A109V
c.326C>T
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.V114A
c.341T>C
2 papers
NM_001134366.2
p.P106P
c.318C>T
1 paper
NM_001134366.2
p.D102delFs
c.304_305delGA
1 paper
NM_001134366.2
p.A100S
c.298G>T
1 paper
NM_001134366.2
p.P99Q
c.296C>A
1 paper
NM_001134366.2
p.S125T
c.374G>C
1 paper
NM_001134366.2
p.I133L
c.397A>C
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