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.P105L

c.314C>T

Surrounding Variants

1 paper

NM_000817.3

p.E110K

c.328G>A

2 papers

NM_000817.3

p.Q112K

c.334C>A

1 paper

NM_000817.3

p.L125L

c.375C>T

1 paper

NM_000817.3

p.Y127F

c.380A>T

2 papers

NM_000817.3

p.T131A

c.391A>G

1 paper

NM_000817.3

p.R134S

c.400C>A

1 paper

NM_000817.3

p.S135Y

c.404C>A

1 paper

NM_000817.3

p.D140Y

c.418G>T

1 paper

NM_000817.3

p.E157K

c.469G>A

1 paper

NM_000817.3

p.P162A

c.484C>G

1 paper

NM_000817.3

p.A100S

c.298G>T

1 paper

NM_000817.3

p.F99I

c.295T>A