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.P1817L

c.5450C>T

Surrounding Variants

2 papers

NM_001165963.4

p.F1815S

c.5444T>C

1 paper

NM_001165963.4

p.A1819V

c.5456C>T

2 papers

NM_001165963.4

p.A1819E

c.5456C>A

2 papers

NM_001165963.4

p.A1819delFs

c.5455_5456delGC

3 papers

NM_001165963.4

p.Q1821*

c.5461C>T

2 papers

NM_001165963.4

p.Q1821P

c.5462A>C

2 papers

NM_001165963.4

p.W1812C

c.5436G>T

3 papers

NM_001165963.4

p.W1812C

c.5436G>C

5 papers

NM_001165963.4

p.W1812*

c.5436G>A

1 paper

NM_006920.6

p.F1811Y

c.5432T>A

2 papers

NM_001165963.4

p.W1812S

c.5435G>C

5 papers

NM_001165963.4

p.W1812*

c.5435G>A