Varaico: Literature-Extracted Genetic Variants

GRM6

254 papers

RefSeq Summary

L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in mo...

Pfam Domains

ANF_receptoraa 67–478UCSCReceptor family ligand binding region

NCD3Gaa 513–564UCSCNine Cysteines Domain of family 3 GPCR

7tm_3aa 579–839UCSC7 transmembrane sweet-taste receptor of 3 GCPR

Gene Aliases

HGNC Name

glutamate metabotropic receptor 6

HGNC Alias Symbols

GPRC1F; mGlu6; MGLUR6; CSNB1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000843.4

p.G508D

c.1523G>A

Surrounding Variants

1 paper

NM_000843.4

p.P510P

c.1530C>T

6 papers

NM_000843.4

p.V513M

c.1537G>A

3 papers

NM_000843.4

p.S515L

c.1544C>T

1 paper

NM_000843.4

p.D500_V501Splc

c.1501-1G>T

1 paper

NM_000843.4

p.L517insFs

c.1551dupG

1 paper

NM_000843.4

p.C518fs

c.1552_1553fs

1 paper

NM_000843.4

p.C522insFs

c.1564_1565insGC

1 paper

NM_000843.4

p.C522S

c.1564T>A

1 paper

NM_000843.4

p.C522S

c.1565G>C

10 papers

NM_000843.4

p.C522Y

c.1565G>A

1 paper

NM_000843.4

p.G523insFs

c.1567_1568insCG

2 papers

NM_000843.4

p.P524L

c.1571C>T