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.G1688W

c.5062G>T

Surrounding Variants

2 papers

NM_001165963.4

p.G1688V

c.5063G>T

3 papers

NM_001165963.4

p.F1687S

c.5060T>C

1 paper

NM_001165964.3

p.G1660G

c.4980G>T

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_001165963.4

p.I1686fs

c.5056_5057fs

1 paper

NM_001165963.4

p.I1686delFs

c.5057delA

1 paper

NM_001165963.4

p.I1686fs

c.5056_5057fs

1 paper

NM_001165963.4

p.S1690Fs

c.5068_5069delinsGFs

23 papers

NM_001165963.4

p.A1685V

c.5054C>T

19 papers

NM_001165963.4

p.A1685D

c.5054C>A

4 papers

NM_001165963.4

p.A1685S

c.5053G>T