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

1 paper

NM_001165963.4

p.R187P

c.560G>C

Surrounding Variants

4 papers

NM_001165963.4

p.R187Q

c.560G>A

5 papers

NM_001165963.4

p.R187W

c.559C>T

1 paper

NM_001165963.4

p.F185_R187Fs

c.554_559delinsTGTGFs

1 paper

NM_001165963.4

p.D188Y

c.562G>T

1 paper

NM_001165963.4

p.L186P

c.557T>C

26 papers

NM_001165963.4

p.D188V

c.563A>T

1 paper

NM_001165963.4

p.D188A

c.563A>C

1 paper

NM_001165963.4

p.P189L

c.566C>T

11 papers

NM_001165963.4

p.W190R

c.568T>C

11 papers

NM_001165963.4

p.W190R

c.568T>A

8 papers

NM_001165963.4

p.W190*

c.569G>A

7 papers

NM_001165963.4

p.W190*

c.570G>A