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

2 papers

NM_004172.5

p.R388K

c.1163G>A

Surrounding Variants

1 paper

NM_004172.5

p.F389L

c.1165T>C

10 papers

NM_004172.5

p.T387P

c.1159A>C

1 paper

NM_004172.5

p.F389L

c.1167C>A

1 paper

NM_004172.5

p.F389L

c.1167C>G

1 paper

NM_004172.5

p.V390M

c.1168G>A

4 papers

NM_004172.5

p.R385H

c.1154G>A

1 paper

NM_004172.5

p.P392A

c.1174C>G

1 paper

NM_004172.5

p.P392L

c.1175C>T

8 papers

NM_004172.5

p.V393I

c.1177G>A

1 paper

NM_004172.5

p.G381S

c.1141G>A

1 paper

NM_004172.5

p.T396A

c.1186A>G

1 paper

NM_004172.5

p.I397V

c.1189A>G