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

1–12 of 116 variants

5 papers

NM_000817.3

p.S12C

c.35C>G

4 papers

NM_000817.3

p.R531*

c.1591C>T

3 papers

NM_000817.3

p.T27K

c.80C>A

3 papers

NM_000817.3

p.P403L

c.1208C>T

3 papers

NM_000817.3

p.V418F

c.1252G>T

2 papers

NM_000817.3

p.Y29*

c.87C>A

2 papers

NM_000817.3

p.Y29*

c.87C>G

2 papers

NM_000817.3

p.H37H

c.111T>C

2 papers

NM_000817.3

p.R62C

c.184C>T

2 papers

NM_000817.3

p.Q112K

c.334C>A

2 papers

NM_000817.3

p.T131A

c.391A>G

2 papers

NM_000817.3

p.Y258C

c.773A>G