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

64 papers

NM_001165963.4

p.W1204R

c.3610T>C

Surrounding Variants

63 papers

NM_001165963.4

p.W1204R

c.3610T>A

2 papers

NM_001165963.4

p.Q1203delFs

c.3608delT

1 paper

NM_001165963.4

p.W1204L

c.3611G>T

6 papers

NM_001165963.4

p.W1204*

c.3611G>A

1 paper

NM_001165963.4

p.W1204C

c.3612G>T

1 paper

NM_001165963.4

p.W1204C

c.3612G>C

6 papers

NM_001165963.4

p.W1204*

c.3612G>A

1 paper

NM_001165963.4

p.R1200_K1202del3

c.3598_3605del9

1 paper

NM_001165963.4

p.W1205*

c.3614G>A

1 paper

NM_006920.6

p.Q1192_W1194delFs

c.3576_3580del5

1 paper

NM_001165963.4

p.W1205*

c.3615G>A

7 papers

NM_001165963.4

p.L1207P

c.3620T>C