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

2 papers

NM_000388.4

p.Q1001P

c.3002A>C

Surrounding Variants

1 paper

NM_001178065.2

p.Q1011E

c.3031C>G

1 paper

NM_000388.4

p.Q1001*

c.3001C>T

1 paper

NM_000388.4

p.K1002Q

c.3004A>C

1 paper

NM_000388.4

p.A1000S

c.2998G>T

1 paper

NM_000388.4

p.E999A

c.2996A>C

1 paper

NM_000388.4

p.S1003N

c.3008G>A

1 paper

NM_000388.4

p.S1004R

c.3010A>C

1 paper

NM_000388.4

p.S1004R

c.3012C>A

1 paper

NM_000388.4

p.S1004R

c.3012C>G

1 paper

NM_000388.4

p.S997S

c.2991C>T

11 papers

NM_000388.4

p.D1005N

c.3013G>A

1 paper

NM_000388.4

p.D1005H

c.3013G>C