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.Q940P

c.2819A>C

Surrounding Variants

1 paper

NM_000388.4

p.Q940*

c.2818C>T

2 papers

NM_000388.4

p.T939I

c.2816C>T

5 papers

NM_000388.4

p.E942K

c.2824G>A

1 paper

NM_000388.4

p.E942V

c.2825A>T

1 paper

NM_000388.4

p.L938I

c.2812C>A

1 paper

NM_000388.4

p.Q944*

c.2830C>T

1 paper

NM_000388.4

p.L936P

c.2807T>C

1 paper

NM_000388.4

p.P935L

c.2804C>T

1 paper

NM_000388.4

p.P935A

c.2803C>G

2 papers

NM_000388.4

p.Q945Q

c.2835G>A

3 papers

NM_000388.4

p.Q934*

c.2800C>T

2 papers

NM_000388.4

p.Q946Q

c.2838G>A