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

24 papers

NM_001165963.4

p.D194N

c.580G>A

Surrounding Variants

1 paper

NM_001165963.4

p.D194Y

c.580G>T

1 paper

NM_001165963.4

p.D194H

c.580G>C

1 paper

NM_001165963.4

p.L193L

c.579C>T

2 papers

NM_001165963.4

p.D194G

c.581A>G

3 papers

NM_001165963.4

p.D194A

c.581A>C

3 papers

NM_001165963.4

p.L193F

c.577C>T

1 paper

NM_001165963.4

p.W192*

c.576G>A

1 paper

NM_001165963.4

p.W192*

c.575G>A

1 paper

NM_001165963.4

p.W192R

c.574T>C

1 paper

NM_001165963.4

p.W192R

c.574T>A

2 papers

NM_001165963.4

p.T196I

c.587C>T

4 papers

NM_001165963.4

p.N191K

c.573C>G