Varaico: Literature-Extracted Genetic Variants

Gene:GAD2
Variant:p.M415I

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
2 papers
NM_001134366.2
p.M415I
c.1245G>C
Surrounding Variants
2 papers
NM_001134366.2
p.M415I
c.1245G>A
2 papers
NM_001134366.2
p.M415I
c.1245G>T
1 paper
NM_001134366.2
p.G413insFs
c.1237_1238ins4
1 paper
NM_001134366.2
p.M421I
c.1263G>A
1 paper
NM_001134366.2
p.M421I
c.1263G>C
1 paper
NM_001134366.2
p.M421I
c.1263G>T
1 paper
NM_001134366.2
p.Y425N
c.1273T>A
1 paper
NM_001134366.2
p.Y433F
c.1298A>T
1 paper
NM_001134366.2
p.D434Y
c.1300G>T
1 paper
NM_001134366.2
p.L435V
c.1303C>G
1 paper
NM_001134366.2
p.Y437H
c.1309T>C
2 papers
NM_001134366.2
p.Y437C
c.1310A>G
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