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

5 papers

NM_001165963.4

p.P113T

c.337C>A

Surrounding Variants

2 papers

NM_001165963.4

p.P113A

c.337C>G

1 paper

NM_001165963.4

p.L111_T112del1

c.333_335delGTT

2 papers

NM_001165963.4

p.P113R

c.338C>G

5 papers

NM_001165963.4

p.T112I

c.335C>T

1 paper

NM_001165963.4

p.T112S

c.335C>G

1 paper

NM_001165963.4

p.L111delFs

c.333delT

1 paper

NM_001165963.4

p.T112S

c.334A>T

3 papers

NM_001165963.4

p.P113_F114delFs

c.337_340del4

1 paper

NM_001165963.4

p.L111L

c.333A>G

1 paper

NM_001165963.4

p.L111_T112insFs

c.333_334insG

1 paper

NM_001165963.4

p.L111_T112insFs

c.333_334insC

5 papers

NM_001165963.4

p.L111*

c.332T>G