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.D1235fs

c.3703_3704fs

Surrounding Variants

1 paper

NM_052867.4

p.D1235delFs

c.3703delC

1 paper

NM_052867.4

p.T1238T

c.3714C>T

2 papers

NM_052867.4

p.M1244R

c.3731T>G

1 paper

NM_052867.4

p.L1254Q

c.3761T>A

1 paper

NM_052867.4

p.V1220V

c.3660C>G

2 papers

NM_052867.4

p.L1190L

c.3570T>C

1 paper

NM_052867.4

p.P1187L

c.3560C>T

3 papers

NM_052867.4

p.Q1186*

c.3556C>T

2 papers

NM_052867.4

p.A1185T

c.3553G>A

13 papers

NM_052867.4

p.R1181Q

c.3542G>A

1 paper

NM_052867.4

p.R1181*

c.3541C>T

2 papers

NM_052867.4

p.R1181G

c.3541C>G