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.S900N

c.2699G>A

Surrounding Variants

1 paper

NM_000388.4

p.S901_G904delFs

c.2703_2710del8

1 paper

NM_000388.4

p.S901fs

c.2701_2702fs

1 paper

NM_000388.4

p.S901del1

c.2701_2702delAGC

1 paper

NM_000388.4

p.S901N

c.2702G>A

1 paper

NM_000388.4

p.S899P

c.2695T>C

3 papers

NM_000388.4

p.S899A

c.2695T>G

16 papers

NM_000388.4

p.R898Q

c.2693G>A

1 paper

NM_000388.4

p.R898L

c.2693G>T

1 paper

NM_000388.4

p.L902P

c.2705T>C

1 paper

NM_000388.4

p.R898W

c.2692C>T

1 paper

NM_000388.4

p.G903R

c.2707G>A

1 paper

NM_000388.4

p.G903R

c.2707G>C