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

10 papers

NM_000843.4

p.V243F

c.727G>T

Surrounding Variants

3 papers

NM_000843.4

p.V243insFs

c.727_728insG

2 papers

NM_000843.4

p.V243delFs

c.727delC

7 papers

NM_000843.4

p.V243fs

c.727_728fs

2 papers

NM_000843.4

p.G241Splc

c.722-1G>T

3 papers

NM_000843.4

p.I245V

c.733A>G

1 paper

NM_000843.4

p.Q247K

c.739C>A

1 paper

NM_000843.4

p.P252R

c.755C>G

1 paper

NM_000843.4

p.E254K

c.760G>A

1 paper

NM_000843.4

p.P257S

c.769C>T

1 paper

NM_000843.4

p.G275S

c.823G>A

7 papers

NM_000843.4

p.G275D

c.824G>A

1 paper

NM_000843.4

p.R286Splc

c.857+24G>A