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.S82S

c.246C>T

Surrounding Variants

1 paper

NM_000817.3

p.R87H

c.260G>A

1 paper

NM_000817.3

p.R89W

c.265C>T

1 paper

NM_000817.3

p.R90C

c.268C>T

1 paper

NM_000817.3

p.E92V

c.275A>T

1 paper

NM_000817.3

p.Q71K

c.211C>A

1 paper

NM_000817.3

p.L98M

c.292C>A

1 paper

NM_000817.3

p.F99I

c.295T>A

1 paper

NM_000817.3

p.A100S

c.298G>T

2 papers

NM_000817.3

p.R62C

c.184C>T

1 paper

NM_000817.3

p.G49G

c.147C>T

1 paper

NM_000817.3

p.P105L

c.314C>T

1 paper

NM_000817.3

p.E110K

c.328G>A