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

6 papers

NM_001165963.4

p.S1231T

c.3692G>C

Surrounding Variants

21 papers

NM_001165963.4

p.S1231R

c.3693T>G

21 papers

NM_001165963.4

p.S1231R

c.3693T>A

1 paper

NM_001165963.4

p.S1231delFs

c.3691_3692delCT

1 paper

NM_001165963.4

p.S1231C

c.3691A>T

21 papers

NM_001165963.4

p.S1231R

c.3691A>C

1 paper

NM_001165963.4

p.L1230insFs

c.3690dupT

2 papers

NM_001165963.4

p.L1230P

c.3689T>C

1 paper

NM_001165963.4

p.S1232N

c.3695G>A

2 papers

NM_001165963.4

p.L1230F

c.3688C>T

6 papers

NM_001165963.4

p.G1233R

c.3697G>C

1 paper

NM_001165963.4

p.G1233D

c.3698G>A

1 paper

NM_001165963.4

p.W1219_L1229Fs

c.3655_3685delinsATAFs