Varaico: Literature-Extracted Genetic Variants

Gene:GRM1
Variant:p.L253P

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.L253P
c.758T>C
Surrounding Variants
1 paper
NM_001278064.2
p.L253H
c.758T>A
1 paper
NM_001278064.2
p.C254R
c.760T>C
3 papers
NM_001278064.2
p.I255N
c.764T>A
1 paper
NM_001278064.2
p.I255T
c.764T>C
1 paper
NM_001278064.2
p.I255I
c.765C>A
1 paper
NM_001278064.2
p.A256T
c.766G>A
1 paper
NM_001278064.2
p.A256A
c.768C>G
1 paper
NM_001278064.2
p.S258F
c.773C>T
1 paper
NM_001278064.2
p.K260I
c.779A>T
2 papers
NM_001278064.2
p.K245*
c.733A>T
5 papers
NM_001278064.2
p.Y262C
c.785A>G
4 papers
NM_001278064.2
p.G240R
c.718G>A
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