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.I161N

c.482T>A

Surrounding Variants

1 paper

NM_004172.5

p.I161T

c.482T>C

1 paper

NM_004172.5

p.A167V

c.500C>T

1 paper

NM_004172.5

p.F170L

c.508T>C

1 paper

NM_004172.5

p.F170L

c.510C>A

1 paper

NM_004172.5

p.F170L

c.510C>G

1 paper

NM_004172.5

p.K149N

c.447G>C

1 paper

NM_004172.5

p.L173_I174insA

c.517_521ins3

2 papers

NM_004172.5

p.K149T

c.446A>C

1 paper

NM_004172.5

p.I174T

c.521T>C

3 papers

NM_004172.5

p.G148R

c.442G>C

1 paper

NM_004172.5

p.H146D

c.436C>G

1 paper

NM_004172.5

p.I145L

c.433A>C