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.P1837delFs

c.5511delC

Surrounding Variants

2 papers

NM_001165963.4

p.P1837fs

c.5509_5510fs

2 papers

NM_001165963.4

p.P1837delFs

c.5510delG

2 papers

NM_001165963.4

p.P1838L

c.5513C>T

3 papers

NM_001165963.4

p.P1837L

c.5510C>T

3 papers

NM_001165963.4

p.P1837fs

c.5509_5510fs

1 paper

NM_001165963.4

p.L1839F

c.5515C>T

1 paper

NM_001165963.4

p.P1837S

c.5509C>T

3 papers

NM_001165963.4

p.L1839V

c.5515C>G

1 paper

NM_001165963.4

p.L1839R

c.5516T>G

2 papers

NM_001165963.4

p.L1839P

c.5516T>C

1 paper

NM_001165963.4

p.E1836insFs

c.5506_5507insG

1 paper

NM_001165963.4

p.L1835_E1836delFs

c.5503_5506del4