Varaico: Literature-Extracted Genetic Variants

Gene:GRM5
Variant:p.R138H

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
2 papers
NM_001143831.3
p.R138H
c.413G>A
Surrounding Variants
1 paper
NM_001143831.3
p.R138C
c.412C>T
1 paper
NM_001143831.3
p.F137fs
c.409_410fs
1 paper
NM_001143831.3
p.F137delFs
c.410delA
2 papers
NM_001143831.3
p.F137S
c.410T>C
1 paper
NM_001143831.3
p.P142L
c.425C>T
1 paper
NM_001143831.3
p.V146D
c.437T>A
1 paper
NM_001143831.3
p.R128H
c.383G>A
1 paper
NM_001143831.3
p.R128C
c.382C>T
1 paper
NM_001143831.3
p.V127V
c.381A>G
1 paper
NM_001143831.3
p.G150S
c.448G>A
1 paper
NM_001143831.3
p.S151A
c.451T>G
1 paper
NM_001143831.3
p.G125A
c.374G>C
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