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.L1145delFs

c.3434_3435delCA

Surrounding Variants

3 papers

NM_001165963.4

p.E1147*

c.3439G>T

1 paper

NM_001165963.4

p.K1144N

c.3432A>T

1 paper

NM_001165963.4

p.K1144N

c.3432A>C

1 paper

NM_001165963.4

p.K1144fs

c.3430_3431fs

1 paper

NM_001165963.4

p.N1146_E1147delFs

c.3438_3441del4

3 papers

NM_001165963.4

p.E1143_K1144Splc

c.3430-1G>A

2 papers

NM_001165963.4

p.E1143_K1144Splc

c.3430-3C>G

1 paper

NM_001165963.4

p.S1149G

c.3445A>G

1 paper

NM_001165963.4

p.S1150delFs

c.3448_3449delCT

4 papers

NM_001165963.4

p.S1151*

c.3452C>G

3 papers

NM_001165963.4

p.S1151*

c.3452C>A

2 papers

NM_001165963.4

p.S1152*

c.3455C>G