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.F945Y

c.2834T>A

Surrounding Variants

1 paper

NM_006920.6

p.F934S

c.2801T>C

5 papers

NM_001165963.4

p.F945L

c.2833T>C

1 paper

NM_001165963.4

p.F945I

c.2833T>A

5 papers

NM_001165963.4

p.F945L

c.2835C>G

5 papers

NM_001165963.4

p.F945L

c.2835C>A

2 papers

NM_001165963.4

p.F945fs

c.2833_2834fs

36 papers

NM_001353960.2

p.R917C

c.2749C>T

NM_001165963.4

p.R946C

c.2836C>T

NM_006920.6

p.R935C

c.2803C>T

6 papers

NM_001165963.4

p.R946S

c.2836C>A

4 papers

NM_001165963.4

p.V944A

c.2831T>C

8 papers

NM_001165963.4

p.V944E

c.2831T>A

1 paper

NM_001165963.4

p.I943_V944delFs

c.2827_2830del4

3 papers

NM_006920.6

p.R935P

c.2804G>C

NM_001165963.4

p.R946P

c.2837G>C