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.K487Q

c.1459A>C

Surrounding Variants

1 paper

NM_052867.4

p.L485R

c.1454T>G

1 paper

NM_052867.4

p.R484Q

c.1451G>A

1 paper

NM_052867.4

p.R481Q

c.1442G>A

7 papers

NM_052867.4

p.Y497fs

c.1489_1490fs

6 papers

NM_052867.4

p.Y497delFs

c.1489delA

1 paper

NM_052867.4

p.K498T

c.1493A>C

1 paper

NM_052867.4

p.K498N

c.1494G>T

1 paper

NM_052867.4

p.K498N

c.1494G>C

1 paper

NM_052867.4

p.P502S

c.1504C>T

1 paper

NM_052867.4

p.K504R

c.1511A>G

1 paper

NM_052867.4

p.K505fs

c.1513_1514fs

1 paper

NM_052867.4

p.K505M

c.1514A>T