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.G36R

c.106G>A

Surrounding Variants

2 papers

NM_000388.4

p.G36R

c.106G>C

1 paper

NM_000388.4

p.G35E

c.104G>A

1 paper

NM_000388.4

p.G35A

c.104G>C

1 paper

NM_000388.4

p.L37fs

c.109_110fs

3 papers

NM_000388.4

p.L34L

c.102T>C

1 paper

NM_000388.4

p.G36insFs

c.108dupG

1 paper

NM_000388.4

p.L37L

c.111C>T

1 paper

NM_000388.4

p.F38del1

c.112_113delTTT

3 papers

NM_000388.4

p.L34P

c.101T>C

1 paper

NM_000388.4

p.L34_G35ins4

c.100_104ins12

1 paper

NM_000388.4

p.L34F

c.100C>T

1 paper

NM_000388.4

p.I33I

c.99C>A