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

7 papers

NM_001165963.4

p.V1630M

c.4888G>A

Surrounding Variants

2 papers

NM_001165963.4

p.V1630L

c.4888G>T

2 papers

NM_001165963.4

p.V1630L

c.4888G>C

2 papers

NM_001165963.4

p.V1630G

c.4889T>G

4 papers

NM_001165963.4

p.Y1628*

c.4884T>G

4 papers

NM_001165963.4

p.Y1628*

c.4884T>A

1 paper

NM_001165963.4

p.S1631C

c.4892C>G

14 papers

NM_001165963.4

p.P1632S

c.4894C>T

1 paper

NM_001165963.4

p.T1633_L1634insAC

c.4897_4901ins6

1 paper

NM_001165963.4

p.F1635L

c.4903T>C

1 paper

NM_001165963.4

p.L1624R

c.4871T>G

10 papers

NM_001165963.4

p.L1624P

c.4871T>C

3 papers

NM_001165963.4

p.L1624Q

c.4871T>A