Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_052867.4

p.T268I

c.803C>T

Surrounding Variants

1 paper

NM_052867.4

p.T268S

c.803C>G

1 paper

NM_052867.4

p.T268S

c.802A>T

1 paper

NM_052867.4

p.E275K

c.823G>A

1 paper

NM_052867.4

p.A277T

c.829G>A

1 paper

NM_052867.4

p.E280A

c.839A>C

1 paper

NM_052867.4

p.R295fs

c.883_884fs

1 paper

NM_052867.4

p.R295H

c.884G>A

1 paper

NM_052867.4

p.R295delFs

c.883delG

1 paper

NM_052867.4

p.A310T

c.928G>A

4 papers

NM_052867.4

p.L312V

c.934C>G

6 papers

NM_052867.4

p.L312I

c.934C>A

6 papers

NM_052867.4

p.V313G

c.938T>G