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

3 papers

NM_001165963.4

p.I883T

c.2648T>C

Surrounding Variants

3 papers

NM_001165964.3

p.G856D

c.2567G>A

NM_001165963.4

p.G884D

c.2651G>A

2 papers

NM_001165963.4

p.I882F

c.2644A>T

1 paper

NM_006920.6

p.K870N

c.2610G>C

1 paper

NM_001165963.4

p.S886P

c.2656T>C

1 paper

NM_001165963.4

p.I880delFs

c.2639delA

1 paper

NM_006920.6

p.I869R

c.2606T>G

1 paper

NM_006920.6

p.S875F

c.2624C>T

1 paper

NM_001165963.4

p.L879fs

c.2635_2636fs

1 paper

NM_001165963.4

p.L879R

c.2636T>G

1 paper

NM_001165963.4

p.V887A

c.2660T>C

1 paper

NM_001165963.4

p.L879delFs

c.2635delG

4 papers

NM_001165963.4

p.A889T

c.2665G>A