Varaico: Literature-Extracted Genetic Variants

Gene:GRM6
Variant:p.P688delFs

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
2 papers
NM_000843.4
p.P688delFs
c.2062delG
Surrounding Variants
1 paper
NM_000843.4
p.P689fs
c.2065_2066fs
2 papers
NM_000843.4
p.S685W
c.2054C>G
1 paper
NM_000843.4
p.P694R
c.2081C>G
1 paper
NM_000843.4
p.R684H
c.2051G>A
1 paper
NM_000843.4
p.T695A
c.2083A>G
2 papers
NM_000843.4
p.R684C
c.2050C>T
1 paper
NM_000843.4
p.Q697*
c.2089C>T
4 papers
NM_000843.4
p.Q697L
c.2090A>T
5 papers
NM_000843.4
p.L698V
c.2092C>G
1 paper
NM_000843.4
p.I700V
c.2098A>G
1 paper
NM_000843.4
p.Q697_V699del3
c.2089_2096del9
5 papers
NM_000843.4
p.R677H
c.2030G>A
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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."