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

1 paper

NM_000817.3

p.G34R

c.100G>C

Surrounding Variants

1 paper

NM_000817.3

p.C33C

c.99C>T

2 papers

NM_000817.3

p.H37H

c.111T>C

2 papers

NM_000817.3

p.Y29*

c.87C>A

2 papers

NM_000817.3

p.Y29*

c.87C>G

1 paper

NM_000817.3

p.T28M

c.83C>T

1 paper

NM_000817.3

p.L43Q

c.128T>A

1 paper

NM_000817.3

p.T28M

c.83C>T

3 papers

NM_000817.3

p.T27K

c.80C>A

1 paper

NM_000817.3

p.R25C

c.73C>T

1 paper

NM_000817.3

p.P19S

c.55C>T

5 papers

NM_000817.3

p.S12C

c.35C>G

1 paper

NM_000817.3

p.S7insFs

c.19dupT