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.G650D

c.1949G>A

Surrounding Variants

1 paper

NM_001143831.3

p.P655Q

c.1964C>A

1 paper

NM_001143831.3

p.Y645C

c.1934A>G

1 paper

NM_001143831.3

p.Y643insFs

c.1927_1928insT

1 paper

NM_001143831.3

p.A637V

c.1910C>T

1 paper

NM_001143831.3

p.N667Y

c.1999A>T

1 paper

NM_001143831.3

p.L627V

c.1879C>G

1 paper

NM_001143831.3

p.G675G

c.2025C>A

3 papers

NM_001143831.3

p.K679_I680del1

c.2036_2038delTCT

1 paper

NM_001143831.3

p.S613A

c.1837T>G

1 paper

NM_001143831.3

p.S612F

c.1835C>T

1 paper

NM_001143831.3

p.M688I

c.2064G>T

1 paper

NM_001143831.3

p.M688I

c.2064G>C