Varaico: Literature-Extracted Genetic Variants

Gene:GRM5
Variant:p.D606N

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.D606N
c.1816G>A
Surrounding Variants
1 paper
NM_001143831.3
p.R605H
c.1814G>A
1 paper
NM_001143831.3
p.P608S
c.1822C>T
1 paper
NM_001143831.3
p.S612F
c.1835C>T
1 paper
NM_001143831.3
p.S613A
c.1837T>G
1 paper
NM_001143831.3
p.V599L
c.1795G>C
1 paper
NM_001143831.3
p.T598S
c.1793C>G
1 paper
NM_001143831.3
p.T598S
c.1792A>T
1 paper
NM_001143831.3
p.L627V
c.1879C>G
1 paper
NM_001143831.3
p.A582P
c.1744G>C
1 paper
NM_001143831.3
p.E579A
c.1736A>C
1 paper
NM_001143831.3
p.P578S
c.1732C>T
1 paper
NM_001143831.3
p.D577H
c.1729G>C
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