Varaico: Literature-Extracted Genetic Variants

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.M688I

c.2064G>A

Surrounding Variants

1 paper

NM_001143831.3

p.M688I

c.2064G>T

1 paper

NM_001143831.3

p.M688I

c.2064G>C

1 paper

NM_001143831.3

p.Q693K

c.2077C>A

3 papers

NM_001143831.3

p.K679_I680del1

c.2036_2038delTCT

1 paper

NM_001143831.3

p.A697A

c.2091T>A

1 paper

NM_001143831.3

p.G675G

c.2025C>A

2 papers

NM_001143831.3

p.V709I

c.2125G>A

1 paper

NM_001143831.3

p.V709V

c.2127T>A

1 paper

NM_001143831.3

p.N667Y

c.1999A>T

1 paper

NM_001143831.3

p.A710A

c.2130C>T

1 paper

NM_001143831.3

p.L711I

c.2131C>A

1 paper

NM_001143831.3

p.H721L

c.2162A>T