Varaico: Literature-Extracted Genetic Variants

Gene:GRM8
Variant:p.K296fs

GRM8

229 papers

RefSeq Summary

L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in mo...

Pfam Domains

ANF_receptoraa 74–479UCSCReceptor family ligand binding region
NCD3Gaa 511–562UCSCNine Cysteines Domain of family 3 GPCR
7tm_3aa 577–837UCSC7 transmembrane sweet-taste receptor of 3 GCPR

Gene Aliases

HGNC Name

glutamate metabotropic receptor 8

HGNC Alias Symbols

GLUR8; GPRC1H; mGlu8; MGLUR8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000845.3
p.K296fs
c.886_887fs
Surrounding Variants
1 paper
NM_000845.3
p.K296insFs
c.888dupA
2 papers
NM_000845.3
p.K296delFs
c.888delT
1 paper
NM_000845.3
p.L297fs
c.889_890fs
1 paper
NM_000845.3
p.A293G
c.878C>G
3 papers
NM_000845.3
p.I290V
c.868A>G
1 paper
NM_000845.3
p.I306N
c.917T>A
1 paper
NM_000845.3
p.D309A
c.926A>C
1 paper
NM_000845.3
p.D309E
c.927T>G
1 paper
NM_000845.3
p.D309E
c.927T>A
1 paper
NM_000845.3
p.P317S
c.949C>T
1 paper
NM_000845.3
p.E326K
c.976G>A
1 paper
NM_000845.3
p.G327V
c.980G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."