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

2 papers

NM_001165963.4

p.H1393Q

c.4179T>G

Surrounding Variants

2 papers

NM_001165963.4

p.H1393Q

c.4179T>A

1 paper

NM_001165963.4

p.T1394A

c.4180A>G

2 papers

NM_001165963.4

p.H1393P

c.4178A>C

2 papers

NM_001165963.4

p.T1394I

c.4181C>T

1 paper

NM_001165963.4

p.H1393D

c.4177C>G

1 paper

NM_001165963.4

p.N1392K

c.4176T>G

1 paper

NM_001165963.4

p.N1392K

c.4176T>A

1 paper

NM_001165963.4

p.D1389_N1392del0

c.4167_4175del9

2 papers

NM_001165963.4

p.D1395Y

c.4183G>T

4 papers

NM_001165963.4

p.C1396G

c.4186T>G

5 papers

NM_001165963.4

p.N1391S

c.4172A>G

2 papers

NM_001165963.4

p.N1391fs

c.4171_4172fs