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.A576D

c.1727C>A

Surrounding Variants

6 papers

NM_052867.4

p.Y578C

c.1733A>G

9 papers

NM_052867.4

p.Y578S

c.1733A>C

1 paper

NM_052867.4

p.Y582S

c.1745A>C

1 paper

NM_052867.4

p.L564V

c.1690C>G

1 paper

NM_052867.4

p.D561A

c.1682A>C

1 paper

NM_052867.4

p.D558A

c.1673A>C

1 paper

NM_052867.4

p.W556*

c.1668G>A

1 paper

NM_052867.4

p.W556*

c.1667G>A

1 paper

NM_052867.4

p.E554A

c.1661A>C

1 paper

NM_052867.4

p.E554*

c.1660G>T

1 paper

NM_052867.4

p.Q549H

c.1647G>T

1 paper

NM_052867.4

p.Q549H

c.1647G>C