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.N1691T

c.5072A>C

Surrounding Variants

1 paper

NM_001165963.4

p.F1692fs

c.5074_5075fs

6 papers

NM_001165963.4

p.F1692S

c.5075T>C

1 paper

NM_001165963.4

p.S1690Fs

c.5068_5069delinsGFs

1 paper

NM_001165963.4

p.F1692delFs

c.5076delA

2 papers

NM_001165963.4

p.M1689R

c.5066T>G

2 papers

NM_001165963.4

p.M1689T

c.5066T>C

NM_001353955.2

p.M1677T

c.5030T>C

1 paper

NM_006920.6

p.A1682V

c.5045C>T

1 paper

NM_001165963.4

p.A1693D

c.5078C>A

1 paper

NM_001165963.4

p.A1693A

c.5079C>G

1 paper

NM_001165964.3

p.G1660G

c.4980G>T

2 papers

NM_001165963.4

p.G1688V

c.5063G>T

8 papers

NM_001165963.4

p.Y1694C

c.5081A>G