Varaico: Literature-Extracted Genetic Variants

Gene:CALM1
Variant:p.N54S

CALM1

217 papers

RefSeq Summary

This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of car...

Gene Aliases

HGNC Name

calmodulin 1

HGNC Previous Symbol

CALML2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006888.6
p.N54S
c.161A>G
Surrounding Variants
44 papers
NM_006888.6
p.N54I
c.161A>T
1 paper
NM_006888.6
p.I53V
c.157A>G
1 paper
NM_006888.6
p.V56A
c.167T>C
1 paper
NM_006888.6
p.D57A
c.170A>C
1 paper
NM_006888.6
p.D51fs
c.151_152fs
4 papers
NM_006888.6
p.Q50R
c.149A>G
1 paper
NM_006888.6
p.A58A
c.174T>A
1 paper
NM_006888.6
p.D59D
c.177T>C
6 papers
NM_006888.6
p.E46K
c.136G>A
1 paper
NM_006888.6
p.Q42*
c.124C>T
1 paper
NM_006888.6
p.R38R
c.114G>A
1 paper
NM_006888.6
p.R38M
c.113G>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."