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.Y194F

c.581A>T

Surrounding Variants

1 paper

NM_004172.5

p.Y194C

c.581A>G

1 paper

NM_004172.5

p.N193S

c.578A>G

1 paper

NM_004172.5

p.T192S

c.575C>G

1 paper

NM_004172.5

p.T192A

c.574A>G

1 paper

NM_004172.5

p.T192S

c.574A>T

1 paper

NM_004172.5

p.F190C

c.569T>G

1 paper

NM_004172.5

p.P202T

c.604C>A

1 paper

NM_004172.5

p.N206T

c.617A>C

1 paper

NM_004172.5

p.N206S

c.617A>G

1 paper

NM_004172.5

p.L209F

c.625C>T

1 paper

NM_004172.5

p.G211V

c.632G>T

1 paper

NM_004172.5

p.I214T

c.641T>C