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.T993T

c.2979G>A

Surrounding Variants

4 papers

NM_000388.4

p.T993M

c.2978C>T

2 papers

NM_000388.4

p.H994Y

c.2980C>T

1 paper

NM_000388.4

p.H994Q

c.2982C>A

1 paper

NM_000388.4

p.H994Q

c.2982C>G

1 paper

NM_000388.4

p.Q995K

c.2983C>A

1 paper

NM_000388.4

p.S992F

c.2975C>T

1 paper

NM_000388.4

p.Q995H

c.2985G>C

1 paper

NM_000388.4

p.Q995H

c.2985G>T

196 papers

NM_000388.4

p.R990G

c.2968A>G

1 paper

NM_000388.4

p.S997S

c.2991C>T

1 paper

NM_000388.4

p.H989N

c.2965C>A

4 papers

NM_000388.4

p.A988G

c.2963C>G