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.S612F

c.1835C>T

Surrounding Variants

1 paper

NM_001143831.3

p.S613A

c.1837T>G

1 paper

NM_001143831.3

p.P608S

c.1822C>T

1 paper

NM_001143831.3

p.D606N

c.1816G>A

1 paper

NM_001143831.3

p.R605H

c.1814G>A

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.A637V

c.1910C>T

1 paper

NM_001143831.3

p.A582P

c.1744G>C

1 paper

NM_001143831.3

p.Y643insFs

c.1927_1928insT

1 paper

NM_001143831.3

p.Y645C

c.1934A>G