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.F373V

c.1117T>G

Surrounding Variants

1 paper

NM_004172.5

p.I371I

c.1113C>T

1 paper

NM_004172.5

p.C375G

c.1123T>G

1 paper

NM_004172.5

p.L369V

c.1105C>G

1 paper

NM_004172.5

p.E378K

c.1132G>A

1 paper

NM_004172.5

p.A367T

c.1099G>A

2 papers

NM_004172.5

p.S366C

c.1097C>G

1 paper

NM_004172.5

p.S366A

c.1096T>G

1 paper

NM_004172.5

p.G381S

c.1141G>A

4 papers

NM_004172.5

p.R385H

c.1154G>A

10 papers

NM_004172.5

p.T387P

c.1159A>C

2 papers

NM_004172.5

p.R388K

c.1163G>A

1 paper

NM_004172.5

p.F389L

c.1165T>C