Varaico: Literature-Extracted Genetic Variants

Gene:GRM5
Variant:p.L750W

GRM5

270 papers

RefSeq Summary

This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second...

Pfam Domains

ANF_receptoraa 67–474UCSCReceptor family ligand binding region
NCD3Gaa 506–558UCSCNine Cysteines Domain of family 3 GPCR
7tm_3aa 573–821UCSC7 transmembrane sweet-taste receptor of 3 GCPR
GluR_Homer-bdgaa 1162–1212UCSCHomer-binding domain of metabotropic glutamate receptor

Gene Aliases

HGNC Name

glutamate metabotropic receptor 5

HGNC Alias Symbols

MGLUR5; GPRC1E; mGlu5; PPP1R86

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001143831.3
p.L750W
c.2249T>G
Surrounding Variants
1 paper
NM_001143831.3
p.G748E
c.2243G>A
1 paper
NM_001143831.3
p.Y746N
c.2236T>A
1 paper
NM_001143831.3
p.L744I
c.2230C>A
1 paper
NM_001143831.3
p.T742A
c.2224A>G
1 paper
NM_001143831.3
p.V764F
c.2290G>T
1 paper
NM_001143831.3
p.P765S
c.2293C>T
1 paper
NM_001143831.3
p.E770A
c.2309A>C
1 paper
NM_001143831.3
p.V729I
c.2185G>A
1 paper
NM_001143831.3
p.R727P
c.2180G>C
1 paper
NM_001143831.3
p.H721L
c.2162A>T
1 paper
NM_001143831.3
p.Y779C
c.2336A>G
3 papers
NM_001143831.3
p.T780A
c.2338A>G
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