Varaico: Literature-Extracted Genetic Variants

SCN1A

1,842 papers

RefSeq Summary

Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action ...

Pfam Domains

Ion_transaa 127–434UCSCIon transport protein

Na_trans_cytoplaa 555–718UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 767–1003UCSCIon transport protein

Na_trans_assocaa 1006–1213UCSCSodium ion transport-associated

Ion_transaa 1217–1494UCSCIon transport protein

Ion_transaa 1540–1797UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 1

HGNC Previous Symbol

FEB3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001165963.4

p.A107A

c.321C>T

Surrounding Variants

1 paper

NM_001165963.4

p.A107D

c.320C>A

2 papers

NM_001165963.4

p.L108R

c.323T>G

2 papers

NM_001165963.4

p.L108P

c.323T>C

1 paper

NM_001165963.4

p.S106_A107delins

c.316_319delinsC

4 papers

NM_001165963.4

p.S106F

c.317C>T

1 paper

NM_001165963.4

p.S103_T105del3

c.307_314del9

1 paper

NM_001165963.4

p.I110fs

c.328_329fs

3 papers

NM_001165963.4

p.T105I

c.314C>T

1 paper

NM_001165963.4

p.T105N

c.314C>A

1 paper

NM_001165963.4

p.I99_T105del0

c.296_313del18

6 papers

NM_001165963.4

p.A104V

c.311C>T

1 paper

NM_001165963.4

p.A104D

c.311C>A