Varaico: Literature-Extracted Genetic Variants

GAD1

133 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 144–518UCSCPyridoxal-dependent decarboxylase conserved domain

Gene Aliases

HGNC Name

glutamate decarboxylase 1

HGNC Previous Names

glutamate decarboxylase 1 (brain, 67kD); glutamate decarboxylase 1 (brain, 67kDa)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000817.3

p.R531*

c.1591C>T

Surrounding Variants

1 paper

NM_000817.3

p.R532W

c.1594C>T

1 paper

NM_000817.3

p.E533Q

c.1597G>C

1 paper

NM_000817.3

p.E533G

c.1598A>G

1 paper

NM_000817.3

p.K537_V538Splc

c.1611+5G>A

1 paper

NM_000817.3

p.E509K

c.1525G>A

1 paper

NM_000817.3

p.E507_P508Splc

c.1521+1374C>T

1 paper

NM_000817.3

p.V538M

c.1612G>A

1 paper

NM_000817.3

p.G560W

c.1678G>T

1 paper

NM_000817.3

p.N564S

c.1691A>G

1 paper

NM_000817.3

p.A575V

c.1724C>T

1 paper

NM_000817.3

p.I584T

c.1751T>C

1 paper

NM_000817.3

p.E586D

c.1758G>C