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.E184Q

c.550G>C

Surrounding Variants

21 papers

NM_004172.5

p.C186S

c.556T>A

1 paper

NM_004172.5

p.C186G

c.556T>G

1 paper

NM_004172.5

p.C186Y

c.557G>A

20 papers

NM_004172.5

p.C186S

c.557G>C

1 paper

NM_004172.5

p.F178V

c.532T>G

1 paper

NM_004172.5

p.N176T

c.527A>C

1 paper

NM_004172.5

p.R175Splc

c.525-16A>G

1 paper

NM_004172.5

p.F190C

c.569T>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.T192S

c.575C>G

1 paper

NM_004172.5

p.N193S

c.578A>G