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.Y127fs

c.379_380fs

Surrounding Variants

1 paper

NM_004172.5

p.Y127C

c.380A>G

2 papers

NM_004172.5

p.Y127F

c.380A>T

1 paper

NM_004172.5

p.Y127*

c.381T>A

1 paper

NM_004172.5

p.M128L

c.382A>T

1 paper

NM_004172.5

p.V125V

c.375C>A

1 paper

NM_004172.5

p.V125V

c.375C>G

1 paper

NM_004172.5

p.M128K

c.383T>A

6 papers

NM_004172.5

p.M128R

c.383T>G

1 paper

NM_004172.5

p.T129T

c.387T>C

1 paper

NM_004172.5

p.T130A

c.388A>G

2 papers

NM_004172.5

p.T131A

c.391A>G

1 paper

NM_004172.5

p.M121T

c.362T>C