Varaico: Literature-Extracted Genetic Variants

Gene:GRM6
Variant:p.L12H

GRM6

254 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 67–478UCSCReceptor family ligand binding region
NCD3Gaa 513–564UCSCNine Cysteines Domain of family 3 GPCR
7tm_3aa 579–839UCSC7 transmembrane sweet-taste receptor of 3 GCPR

Gene Aliases

HGNC Name

glutamate metabotropic receptor 6

HGNC Alias Symbols

GPRC1F; mGlu6; MGLUR6; CSNB1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000843.4
p.L12H
c.35T>A
Surrounding Variants
1 paper
NM_000843.4
p.L12L
c.36C>T
1 paper
NM_000843.4
p.L11L
c.31C>T
1 paper
NM_000843.4
p.R8R
c.24G>A
1 paper
NM_000843.4
p.A7T
c.19G>A
1 paper
NM_000843.4
p.W20*
c.59G>A
1 paper
NM_000843.4
p.W20*
c.60G>A
1 paper
NM_000843.4
p.A2E
c.5C>A
1 paper
NM_000843.4
p.M1I
c.3G>T
1 paper
NM_000843.4
p.M1I
c.3G>A
2 papers
NM_000843.4
p.P17_A22del0
c.50_64del15
1 paper
NM_000843.4
p.M1insFs
c.1_2insG
1 paper
NM_000843.4
p.A24S
c.70G>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."