Varaico: Literature-Extracted Genetic Variants

Gene:NALCN
Variant:p.T513N

NALCN

279 papers

RefSeq Summary

This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitabili...

Pfam Domains

Ion_transaa 35–333UCSCIon transport protein
Ion_transaa 383–610UCSCIon transport protein
Ion_transaa 885–1166UCSCIon transport protein
Ion_transaa 1209–1458UCSCIon transport protein

Gene Aliases

HGNC Name

sodium leak channel, non-selective

HGNC Previous Symbol

VGCNL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_052867.4
p.T513N
c.1538C>A
Surrounding Variants
1 paper
NM_052867.4
p.T513A
c.1537A>G
1 paper
NM_052867.4
p.A514P
c.1540G>C
6 papers
NM_052867.4
p.F512V
c.1534T>G
1 paper
NM_052867.4
p.S515R
c.1543A>C
1 paper
NM_052867.4
p.V511A
c.1532T>C
1 paper
NM_052867.4
p.S515R
c.1545C>G
1 paper
NM_052867.4
p.S515R
c.1545C>A
1 paper
NM_052867.4
p.V510A
c.1529T>C
7 papers
NM_052867.4
p.L509S
c.1526T>C
4 papers
NM_052867.4
p.G507W
c.1519G>T
1 paper
NM_052867.4
p.K505delFs
c.1514delT
1 paper
NM_052867.4
p.K505M
c.1514A>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."