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.F38F

c.114T>C

Surrounding Variants

33 papers

NM_000388.4

p.P39A

c.115C>G

3 papers

NM_000388.4

p.P39S

c.115C>T

1 paper

NM_000388.4

p.P39R

c.116C>G

1 paper

NM_000388.4

p.P39L

c.116C>T

1 paper

NM_000388.4

p.L37L

c.111C>T

1 paper

NM_000388.4

p.F38del1

c.112_113delTTT

1 paper

NM_000388.4

p.P39P

c.117T>C

1 paper

NM_000388.4

p.I40V

c.118A>G

4 papers

NM_000388.4

p.I40F

c.118A>T

1 paper

NM_000388.4

p.L37fs

c.109_110fs

1 paper

NM_000388.4

p.I40T

c.119T>C

2 papers

NM_000388.4

p.H41N

c.121C>A