Varaico: Literature-Extracted Genetic Variants

Gene:CALCR
Variant:p.N453delFs

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
Selected Variant
1 paper
NM_001742.4
p.N453delFs
c.1358delT
Surrounding Variants
1 paper
NM_001742.4
p.N453fs
c.1357_1358fs
1 paper
NM_001742.4
p.Q455*
c.1363C>T
1 paper
NM_001742.4
p.E457K
c.1369G>A
1 paper
NM_001742.4
p.S459S
c.1377T>C
12 papers
NM_001742.4
p.L447P
c.1340T>C
1 paper
NM_001742.4
p.A430A
c.1290C>T
1 paper
NM_001742.4
p.A429S
c.1285G>T
1 paper
NM_001742.4
p.P421L
c.1262C>T
1 paper
NM_001742.4
p.P421S
c.1261C>T
1 paper
NM_001742.4
p.R420H
c.1259G>A
1 paper
NM_001742.4
p.R420C
c.1258C>T
1 paper
NM_001742.4
p.Q415H
c.1245G>T
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