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.I124N

c.371T>A

Surrounding Variants

1 paper

NM_001165963.4

p.L125W

c.374T>G

1 paper

NM_001165963.4

p.L125S

c.374T>C

1 paper

NM_001165963.4

p.L125L

c.375G>A

2 papers

NM_001165963.4

p.I122T

c.365T>C

1 paper

NM_001165963.4

p.I122V

c.364A>G

1 paper

NM_001165963.4

p.A121fs

c.361_362fs

1 paper

NM_001165963.4

p.A121delFs

c.362delG

2 papers

NM_001165963.4

p.H127Y

c.379C>T

6 papers

NM_001165963.4

p.H127D

c.379C>G

3 papers

NM_001165963.4

p.H127L

c.380A>T

1 paper

NM_001165963.4

p.A121S

c.361G>T

1 paper

NM_001165963.4

p.A121T

c.361G>A