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.S1264L

c.3791C>T

Surrounding Variants

1 paper

NM_052867.4

p.A1266T

c.3796G>A

1 paper

NM_052867.4

p.N1274K

c.3822C>A

2 papers

NM_001350748.2

p.R1304*

c.3910C>T

NM_052867.4

p.R1275*

c.3823C>T

1 paper

NM_052867.4

p.D1277H

c.3829G>C

1 paper

NM_052867.4

p.L1278F

c.3832C>T

1 paper

NM_052867.4

p.T1281M

c.3842C>T

14 papers

NM_052867.4

p.W1287L

c.3860G>T

1 paper

NM_052867.4

p.L1254Q

c.3761T>A

2 papers

NM_052867.4

p.M1244R

c.3731T>G

1 paper

NM_052867.4

p.T1238T

c.3714C>T

1 paper

NM_052867.4

p.D1235fs

c.3703_3704fs

1 paper

NM_052867.4

p.D1235delFs

c.3703delC