Varaico: Literature-Extracted Genetic Variants

Gene:GRM1
Variant:p.I812F

GRM1

347 papers

RefSeq Summary

This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ...

Pfam Domains

ANF_receptoraa 77–487UCSCReceptor family ligand binding region
NCD3Gaa 519–571UCSCNine Cysteines Domain of family 3 GPCR
7tm_3aa 586–834UCSC7 transmembrane sweet-taste receptor of 3 GCPR
GluR_Homer-bdgaa 1144–1194UCSCHomer-binding domain of metabotropic glutamate receptor

Gene Aliases

HGNC Name

glutamate metabotropic receptor 1

HGNC Alias Symbols

GPRC1A; mGlu1; MGLUR1; PPP1R85

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001278064.2
p.I812F
c.2434A>T
Surrounding Variants
1 paper
NM_001278064.2
p.C816F
c.2447G>T
1 paper
NM_001278064.2
p.F806S
c.2417T>C
1 paper
NM_001278064.2
p.A818S
c.2452G>T
1 paper
NM_001278064.2
p.V819L
c.2455G>T
1 paper
NM_001278064.2
p.V802M
c.2404G>A
3 papers
NM_001278064.2
p.T824R
c.2471C>G
1 paper
NM_001278064.2
p.V825M
c.2473G>A
1 paper
NM_001278064.2
p.A826S
c.2476G>T
8 papers
NM_001278064.2
p.Y792C
c.2375A>G
1 paper
NM_001278064.2
p.T790fs
c.2368_2369fs
1 paper
NM_001278064.2
p.T790delFs
c.2368_2369delAC
1 paper
NM_001278064.2
p.M835I
c.2505G>C
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