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

3 papers

NM_001165963.4

p.E951K

c.2851G>A

Surrounding Variants

1 paper

NM_001165963.4

p.E951fs

c.2851_2852fs

1 paper

NM_001165963.4

p.E951A

c.2852A>C

1 paper

NM_001165963.4

p.G950V

c.2849G>T

7 papers

NM_001165963.4

p.G950E

c.2849G>A

5 papers

NM_001165963.4

p.W952G

c.2854T>G

5 papers

NM_001165963.4

p.W952R

c.2854T>C

5 papers

NM_001165963.4

p.W952R

c.2854T>A

1 paper

NM_001165963.4

p.G950R

c.2848G>C

1 paper

NM_001165963.4

p.G950R

c.2848G>A

2 papers

NM_001165963.4

p.F945_C949delFs

c.2834_2847del14

6 papers

NM_001165963.4

p.W952*

c.2855G>A

1 paper

NM_001165963.4

p.W952C

c.2856G>T