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.Q197H

c.591G>C

Surrounding Variants

1 paper

NM_001143831.3

p.Q197H

c.591G>T

1 paper

NM_001143831.3

p.A201S

c.601G>T

1 paper

NM_001143831.3

p.P193S

c.577C>T

1 paper

NM_001143831.3

p.V191F

c.571G>T

1 paper

NM_001143831.3

p.V206V

c.618G>C

1 paper

NM_001143831.3

p.L184_F185delFs

c.552_553delAC

1 paper

NM_001143831.3

p.L184L

c.550C>T

1 paper

NM_001143831.3

p.V214L

c.640G>T

1 paper

NM_001143831.3

p.V214L

c.640G>C

1 paper

NM_001143831.3

p.S176I

c.527G>T

3 papers

NM_001143831.3

p.T219T

c.657A>C

2 papers

NM_001143831.3

p.T175A

c.523A>G