Varaico: Literature-Extracted Genetic Variants

SLC1A3

314 papers

RefSeq Summary

This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are ...

Pfam Domains

SDFaa 50–497UCSCSodium:dicarboxylate symporter family

SDFaa 172–385UCSCSodium:dicarboxylate symporter family

Gene Aliases

HGNC Name

solute carrier family 1 member 3

HGNC Alias Symbols

EAAT1; GLAST; EA6; GLAST1; GLAST-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004172.5

p.E230K

c.688G>A

Surrounding Variants

1 paper

NM_004172.5

p.R226*

c.676C>T

1 paper

NM_004172.5

p.V234F

c.700G>T

1 paper

NM_004172.5

p.V238A

c.713T>C

1 paper

NM_004172.5

p.M221V

c.661A>G

1 paper

NM_004172.5

p.A220P

c.658G>C

15 papers

NM_004172.5

p.E219D

c.657G>C

14 papers

NM_004172.5

p.E219D

c.657G>T

1 paper

NM_004172.5

p.S218C

c.653C>G

1 paper

NM_004172.5

p.N242D

c.724A>G

1 paper

NM_004172.5

p.V217M

c.649G>A

1 paper

NM_004172.5

p.A243S

c.727G>T

1 paper

NM_004172.5

p.N216T

c.647A>C