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.Q1166K

c.3496C>A

Surrounding Variants

1 paper

NM_001165963.4

p.Q1166*

c.3496C>T

1 paper

NM_001165963.4

p.E1165del1

c.3493_3495delTTC

1 paper

NM_001165963.4

p.Q1166delFs

c.3497delT

1 paper

NM_001165963.4

p.E1165Q

c.3493G>C

1 paper

NM_001165963.4

p.A1161_V1163delFs

c.3483_3489del7

2 papers

NM_001165963.4

p.V1163delFs

c.3487delC

1 paper

NM_006920.6

p.V1158M

c.3472G>A

1 paper

NM_001165963.4

p.P1162delFs

c.3485delG

1 paper

NM_001165963.4

p.E1170K

c.3508G>A

1 paper

NM_001165963.4

p.A1161A

c.3483A>G

9 papers

NM_001165963.4

p.A1161T

c.3481G>A

1 paper

NM_001165963.4

p.I1159delFs

c.3477delG