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.D460H

c.1378G>C

Surrounding Variants

1 paper

NM_000817.3

p.R457H

c.1370G>A

1 paper

NM_000817.3

p.M467L

c.1399A>C

1 paper

NM_000817.3

p.W468G

c.1402T>G

1 paper

NM_000817.3

p.G449E

c.1346G>A

1 paper

NM_000817.3

p.N428K

c.1284C>A

1 paper

NM_000817.3

p.N428K

c.1284C>G

1 paper

NM_000817.3

p.C427Y

c.1280G>A

3 papers

NM_000817.3

p.V418F

c.1252G>T

1 paper

NM_000817.3

p.L417L

c.1251C>T

1 paper

NM_000817.3

p.L417_V418delins

c.1251_1252delinsTT

1 paper

NM_000817.3

p.M407T

c.1220T>C

3 papers

NM_000817.3

p.P403L

c.1208C>T