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.H291R

c.872A>G

Surrounding Variants

1 paper

NM_000817.3

p.L301F

c.901C>T

1 paper

NM_000817.3

p.D306N

c.916G>A

2 papers

NM_000817.3

p.L284F

c.850C>T

1 paper

NM_000817.3

p.V271fs

c.811_812fs

1 paper

NM_000817.3

p.V271_K272delFs

c.812_816del5

1 paper

NM_000817.3

p.P269P

c.807G>A

1 paper

NM_000817.3

p.Y265C

c.794A>G

2 papers

NM_000817.3

p.Y258C

c.773A>G

1 paper

NM_000817.3

p.A253T

c.757G>A

1 paper

NM_000817.3

p.G251G

c.753G>A

1 paper

NM_000817.3

p.R316Splc

c.948-39C>T

1 paper

NM_000817.3

p.K318E

c.952A>G