Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.M1I

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.M1I
c.3G>C
Surrounding Variants
2 papers
NM_000388.4
p.M1I
c.3G>A
2 papers
NM_000388.4
p.M1I
c.3G>T
1 paper
NM_000388.4
p.A2T
c.4G>A
1 paper
NM_000388.4
p.A2S
c.4G>T
1 paper
NM_000388.4
p.M1K
c.2T>A
4 papers
NM_000388.4
p.M1T
c.2T>C
1 paper
NM_000388.4
p.M1R
c.2T>G
1 paper
NM_000388.4
p.M1L
c.1A>C
2 papers
NM_000388.4
p.M1V
c.1A>G
1 paper
NM_000388.4
p.M1L
c.1A>T
1 paper
NM_000388.4
p.A2E
c.5C>A
3 papers
NM_000388.4
p.A2V
c.5C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."