Varaico: Literature-Extracted Genetic Variants

CASR

1,267 papers

RefSeq Summary

The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intrace...

Pfam Domains

ANF_receptoraa 69–497UCSCReceptor family ligand binding region

NCD3Gaa 537–591UCSCNine Cysteines Domain of family 3 GPCR

7tm_3aa 606–856UCSC7 transmembrane sweet-taste receptor of 3 GCPR

Gene Aliases

HGNC Name

calcium sensing receptor

HGNC Previous Symbols

HHC; HHC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000388.4

p.E224*

c.670G>T

Surrounding Variants

2 papers

NM_000388.4

p.E224K

c.670G>A

1 paper

NM_000388.4

p.I223N

c.668T>A

1 paper

NM_000388.4

p.I223T

c.668T>C

1 paper

NM_000388.4

p.I223delins

c.668_669delinsGG

2 papers

NM_000388.4

p.K225T

c.674A>C

1 paper

NM_000388.4

p.K225R

c.674A>G

1 paper

NM_000388.4

p.G222G

c.666G>A

2 papers

NM_000388.4

p.G222E

c.665G>A

11 papers

NM_000388.4

p.P221Q

c.662C>A

53 papers

NM_000388.4

p.P221L

c.662C>T

1 paper

NM_000388.4

p.F226F

c.678C>T

2 papers

NM_000388.4

p.R227insFs

c.679_680insAG