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

11 papers

NM_001165963.4

p.S228P

c.682T>C

Surrounding Variants

1 paper

NM_001165963.4

p.S228A

c.682T>G

2 papers

NM_001165963.4

p.S228L

c.683C>T

1 paper

NM_001165963.4

p.I227delFs

c.680delA

31 papers

NM_001165963.4

p.I227S

c.680T>G

3 papers

NM_001165963.4

p.I227T

c.680T>C

1 paper

NM_001165963.4

p.I227N

c.680T>A

3 papers

NM_001165963.4

p.V229L

c.685G>C

1 paper

NM_001165963.4

p.V229fs

c.685_686fs

62 papers

NM_001165963.4

p.T226M

c.677C>T

3 papers

NM_001165963.4

p.T226R

c.677C>G

6 papers

NM_001165963.4

p.T226K

c.677C>A

1 paper

NM_001165963.4

p.V229delFs

c.686delA