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

1–12 of 224 variants

3 papers

NM_001143831.3

p.T219T

c.657A>C

3 papers

NM_001143831.3

p.K270R

c.809A>G

3 papers

NM_001143831.3

p.K679_I680del1

c.2036_2038delTCT

3 papers

NM_001143831.3

p.T780A

c.2338A>G

2 papers

NM_001143831.3

p.A59E

c.176C>A

2 papers

NM_001143831.3

p.F137S

c.410T>C

2 papers

NM_001143831.3

p.R138H

c.413G>A

2 papers

NM_001143831.3

p.T175A

c.523A>G

2 papers

NM_001143831.3

p.S266T

c.797G>C

2 papers

NM_001143831.3

p.V709I

c.2125G>A

2 papers

NM_001143831.3

p.R834C

c.2500C>T

2 papers

NM_001143831.3

p.N901S

c.2702A>G