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

9 papers

NM_052867.4

p.Q642*

c.1924C>T

Surrounding Variants

1 paper

NM_052867.4

p.Q642E

c.1924C>G

1 paper

NM_052867.4

p.R632Q

c.1895G>A

1 paper

NM_052867.4

p.D652H

c.1954G>C

1 paper

NM_052867.4

p.F653_T654insT

c.1957_1961ins3

1 paper

NM_052867.4

p.R630H

c.1889G>A

1 paper

NM_052867.4

p.D668_R669delFs

c.2003_2006del4

3 papers

NM_052867.4

p.C675fs

c.2023_2024fs

1 paper

NM_052867.4

p.T674_C675delFs

c.2022_2023delAT

1 paper

NM_052867.4

p.L678delFs

c.2033delA

1 paper

NM_052867.4

p.A696S

c.2086G>T

1 paper

NM_052867.4

p.A696T

c.2086G>A

1 paper

NM_052867.4

p.E698*

c.2092G>T