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

2 papers

NM_052867.4

p.D600E

c.1800C>G

Surrounding Variants

2 papers

NM_052867.4

p.D600E

c.1800C>A

2 papers

NM_052867.4

p.D600G

c.1799A>G

1 paper

NM_052867.4

p.I598delFs

c.1793_1794delAA

1 paper

NM_052867.4

p.E603Q

c.1807G>C

2 papers

NM_052867.4

p.V597I

c.1789G>A

1 paper

NM_052867.4

p.A596V

c.1787C>T

6 papers

NM_052867.4

p.V595F

c.1783G>T

2 papers

NM_052867.4

p.S592G

c.1774A>G

1 paper

NM_052867.4

p.K609N

c.1827G>T

1 paper

NM_052867.4

p.K609N

c.1827G>C

9 papers

NM_052867.4

p.L590F

c.1768C>T

1 paper

NM_052867.4

p.L588_I589Splc

c.1765-6T>G