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.T808P

c.2422A>C

Surrounding Variants

1 paper

NM_000388.4

p.T808A

c.2422A>G

1 paper

NM_000388.4

p.T808S

c.2422A>T

1 paper

NM_000388.4

p.T808S

c.2423C>G

1 paper

NM_000388.4

p.T808I

c.2423C>T

1 paper

NM_000388.4

p.I807N

c.2420T>A

1 paper

NM_000388.4

p.F809I

c.2425T>A

10 papers

NM_000388.4

p.F809L

c.2425T>C

1 paper

NM_000388.4

p.F806L

c.2418C>A

1 paper

NM_000388.4

p.F806L

c.2418C>G

10 papers

NM_000388.4

p.F809L

c.2427C>A

11 papers

NM_000388.4

p.F809L

c.2427C>G

25 papers

NM_000388.4

p.F806S

c.2417T>C