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.G273_P274insFs

c.819_820insT

Surrounding Variants

1 paper

NM_000388.4

p.P274A

c.820C>G

3 papers

NM_000388.4

p.P274S

c.820C>T

1 paper

NM_000388.4

p.G273D

c.818G>A

1 paper

NM_000388.4

p.P274delFs

c.821delC

1 paper

NM_000388.4

p.S272N

c.815G>A

2 papers

NM_000388.4

p.S272I

c.815G>T

1 paper

NM_000388.4

p.S272G

c.814A>G

1 paper

NM_000388.4

p.S272del1

c.814_815delAGT

1 paper

NM_000388.4

p.D275E

c.825T>A

1 paper

NM_000388.4

p.D275E

c.825T>G

3 papers

NM_000388.4

p.S271F

c.812C>T

1 paper

NM_000388.4

p.S271P

c.811T>C