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.E406Q

c.1216G>C

Surrounding Variants

3 papers

NM_004172.5

p.Y405C

c.1214A>G

3 papers

NM_004172.5

p.Y405F

c.1214A>T

1 paper

NM_004172.5

p.E406D

c.1218G>C

1 paper

NM_004172.5

p.E406D

c.1218G>T

1 paper

NM_004172.5

p.A409P

c.1225G>C

1 paper

NM_004172.5

p.A410T

c.1228G>A

2 papers

NM_004172.5

p.F412C

c.1235T>G

1 paper

NM_004172.5

p.I397V

c.1189A>G

1 paper

NM_004172.5

p.T396A

c.1186A>G

8 papers

NM_004172.5

p.V393I

c.1177G>A

1 paper

NM_004172.5

p.P392L

c.1175C>T

1 paper

NM_004172.5

p.P392A

c.1174C>G