Varaico: Literature-Extracted Genetic Variants

Gene:GRM5
Variant:p.P47L

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.P47L
c.140C>T
Surrounding Variants
1 paper
NM_001143831.3
p.K51E
c.151A>G
1 paper
NM_001143831.3
p.G58R
c.172G>C
1 paper
NM_001143831.3
p.G58R
c.172G>A
1 paper
NM_001143831.3
p.A59V
c.176C>T
2 papers
NM_001143831.3
p.A59E
c.176C>A
1 paper
NM_001143831.3
p.R61C
c.181C>T
1 paper
NM_001143831.3
p.R61H
c.182G>A
1 paper
NM_001143831.3
p.P32L
c.95C>T
1 paper
NM_001143831.3
p.M31I
c.93G>T
1 paper
NM_001143831.3
p.M31I
c.93G>C
1 paper
NM_001143831.3
p.M31I
c.93G>A
1 paper
NM_001143831.3
p.A29A
c.87T>C
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