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.P1844fs

c.5530_5531fs

Surrounding Variants

1 paper

NM_001165963.4

p.P1844T

c.5530C>A

1 paper

NM_001165963.4

p.P1844fs

c.5530_5531fs

1 paper

NM_001165963.4

p.P1844_N1845delFs

c.5530_5533del4

2 papers

NM_001165963.4

p.K1846*

c.5536A>T

17 papers

NM_001165963.4

p.K1846fs

c.5536_5537fs

3 papers

NM_001165963.4

p.L1841P

c.5522T>C

3 papers

NM_001165963.4

p.K1846fs

c.5536_5537fs

1 paper

NM_001165963.4

p.L1847P

c.5540T>C

26 papers

NM_001165963.4

p.K1846_L1847delFs

c.5536_5539del4

NM_006920.6

p.K1835_L1836delFs

c.5503_5506del4

1 paper

NM_001165963.4

p.Q1848*

c.5542C>T

1 paper

NM_001165963.4

p.L1839R

c.5516T>G

2 papers

NM_001165963.4

p.L1839P

c.5516T>C