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.T949N

c.2846C>A

Surrounding Variants

1 paper

NM_000388.4

p.L948P

c.2843T>C

3 papers

NM_000388.4

p.P951T

c.2851C>A

1 paper

NM_000388.4

p.P947L

c.2840C>T

1 paper

NM_000388.4

p.P951L

c.2852C>T

1 paper

NM_000388.4

p.P947T

c.2839C>A

2 papers

NM_000388.4

p.Q946Q

c.2838G>A

2 papers

NM_000388.4

p.Q945Q

c.2835G>A

1 paper

NM_000388.4

p.Q953R

c.2858A>G

1 paper

NM_000388.4

p.Q944*

c.2830C>T

1 paper

NM_000388.4

p.R955G

c.2863C>G

1 paper

NM_000388.4

p.R955*

c.2863C>T

1 paper

NM_000388.4

p.R955Q

c.2864G>A