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

1–12 of 418 variants

14 papers

NM_052867.4

p.W1287L

c.3860G>T

13 papers

NM_052867.4

p.R1181Q

c.3542G>A

9 papers

NM_052867.4

p.Y578S

c.1733A>C

9 papers

NM_052867.4

p.L590F

c.1768C>T

9 papers

NM_052867.4

p.Q642*

c.1924C>T

7 papers

NM_052867.4

p.Y497fs

c.1489_1490fs

7 papers

NM_052867.4

p.L509S

c.1526T>C

6 papers

NM_052867.4

p.L312I

c.934C>A

6 papers

NM_052867.4

p.V313G

c.938T>G

6 papers

NM_052867.4

p.I322T

c.965T>C

6 papers

NM_052867.4

p.Y497delFs

c.1489delA

6 papers

NM_052867.4

p.F512V

c.1534T>G