Varaico: Literature-Extracted Genetic Variants

Gene:CALCR

CALCR

137 papers

RefSeq Summary

This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in...

Pfam Domains

HRMaa 69–137UCSCHormone receptor domain
7tm_2aa 145–387UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

calcitonin receptor

HGNC Alias Symbol

CT-R

Papers
RefSeq ID
Protein change
DNA change
1–12 of 95 variants
12 papers
NM_001742.4
p.L447P
c.1340T>C
3 papers
NM_001742.4
p.R404C
c.1210C>T
2 papers
NM_001742.4
p.F13delFs
c.37delA
2 papers
NM_001742.4
p.A51T
c.151G>A
2 papers
NM_001742.4
p.P100L
c.299C>T
2 papers
NM_001742.4
p.N130D
c.388A>G
2 papers
NM_001742.4
p.V250M
c.748G>A
2 papers
NM_001742.4
p.R321Q
c.962G>A
2 papers
NM_001742.4
p.S364C
c.1091C>G
1 paper
NM_001742.4
p.M1I
c.3G>A
1 paper
NM_001742.4
p.R2R
c.4A>C
1 paper
NM_001742.4
p.L14L
c.42T>A
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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."