Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.R990G

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
196 papers
NM_000388.4
p.R990G
c.2968A>G
Surrounding Variants
1 paper
NM_000388.4
p.H989N
c.2965C>A
4 papers
NM_000388.4
p.A988G
c.2963C>G
4 papers
NM_000388.4
p.A988V
c.2963C>T
1 paper
NM_000388.4
p.S992F
c.2975C>T
1 paper
NM_000388.4
p.M987V
c.2959A>G
4 papers
NM_000388.4
p.T993M
c.2978C>T
1 paper
NM_000388.4
p.A986V
c.2957C>T
1 paper
NM_000388.4
p.T993T
c.2979G>A
2 papers
NM_000388.4
p.H994Y
c.2980C>T
1 paper
NM_000388.4
p.A986T
c.2956G>A
221 papers
NM_000388.4
p.A986S
c.2956G>T
1 paper
NM_000388.4
p.N985K
c.2955C>A
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