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.F249V

c.745T>G

Surrounding Variants

1 paper

NM_004172.5

p.F249I

c.745T>A

1 paper

NM_004172.5

p.F249_S250insFs

c.747_748insAG

1 paper

NM_004172.5

p.V247F

c.739G>T

1 paper

NM_004172.5

p.C252F

c.755G>T

1 paper

NM_004172.5

p.G245A

c.734G>C

1 paper

NM_004172.5

p.G245C

c.733G>T

1 paper

NM_004172.5

p.F253L

c.757T>C

1 paper

NM_004172.5

p.F253L

c.759C>A

1 paper

NM_004172.5

p.F253L

c.759C>G

1 paper

NM_004172.5

p.A243S

c.727G>T

1 paper

NM_004172.5

p.F255_G258del0

c.765_773del9

1 paper

NM_004172.5

p.N242D

c.724A>G