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

13 papers

NM_001165963.4

p.H939Q

c.2817C>G

Surrounding Variants

13 papers

NM_001165963.4

p.H939Q

c.2817C>A

1 paper

NM_001165963.4

p.S940A

c.2818T>G

5 papers

NM_001165963.4

p.H939R

c.2816A>G

3 papers

NM_001165963.4

p.H939P

c.2816A>C

4 papers

NM_001165963.4

p.S940F

c.2819C>T

4 papers

NM_001165963.4

p.H939Y

c.2815C>T

1 paper

NM_001165963.4

p.N935_S940delins

c.2804_2820delinsTT

1 paper

NM_001165963.4

p.F941V

c.2821T>G

1 paper

NM_006920.6

p.L931L

c.2791C>T

2 papers

NM_001165963.4

p.L942V

c.2824C>G

4 papers

NM_001165963.4

p.L942P

c.2825T>C

2 papers

NM_001165963.4

p.L942insFs

c.2825_2826insT