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

1–12 of 206 variants

34 papers

NM_004172.5

p.P290R

c.869C>G

21 papers

NM_004172.5

p.C186S

c.556T>A

20 papers

NM_004172.5

p.C186S

c.557G>C

15 papers

NM_004172.5

p.E219D

c.657G>C

14 papers

NM_004172.5

p.E219D

c.657G>T

10 papers

NM_004172.5

p.T387P

c.1159A>C

9 papers

NM_004172.5

p.A329T

c.985G>A

8 papers

NM_004172.5

p.D112A

c.335A>C

8 papers

NM_004172.5

p.V393I

c.1177G>A

7 papers

NM_004172.5

p.T318A

c.952A>G

6 papers

NM_004172.5

p.M128R

c.383T>G

4 papers

NM_004172.5

p.R385H

c.1154G>A