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.M547L

c.1639A>C

Surrounding Variants

1 paper

NM_052867.4

p.M547L

c.1639A>T

2 papers

NM_052867.4

p.M547V

c.1639A>G

1 paper

NM_052867.4

p.M547T

c.1640T>C

1 paper

NM_052867.4

p.F544delFs

c.1632delA

1 paper

NM_052867.4

p.Q549H

c.1647G>T

1 paper

NM_052867.4

p.Q549H

c.1647G>C

1 paper

NM_052867.4

p.F544fs

c.1630_1631fs

1 paper

NM_052867.4

p.R542_A543Splc

c.1627-1G>T

1 paper

NM_052867.4

p.E554*

c.1660G>T

1 paper

NM_052867.4

p.E554A

c.1661A>C

1 paper

NM_052867.4

p.R542_A543Splc

c.1627-12T>G

1 paper

NM_052867.4

p.W556*

c.1667G>A