Varaico: Literature-Extracted Genetic Variants

SCN11A

435 papers

RefSeq Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible fo...

Pfam Domains

Ion_transaa 128–411UCSCIon transport protein

Ion_transaa 576–822UCSCIon transport protein

Na_trans_assocaa 826–1051UCSCSodium ion transport-associated

Ion_transaa 1055–1319UCSCIon transport protein

Ion_transaa 1365–1615UCSCIon transport protein

IQ_SCN5A_Caa 1726–1760UCSCSCN5A-like, C-terminal IQ motif

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 11

HGNC Previous Symbol

SCN12A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001349253.2

p.L810P

c.2429T>C

Surrounding Variants

2 papers

NM_001349253.2

p.L811F

c.2431C>T

41 papers

NM_001349253.2

p.L811P

c.2432T>C

22 papers

NM_001349253.2

p.A808G

c.2423C>G

1 paper

NM_001349253.2

p.S813F

c.2438C>T

1 paper

NM_001349253.2

p.I807V

c.2419A>G

5 papers

NM_001349253.2

p.F814C

c.2441T>G

5 papers

NM_001349253.2

p.N816K

c.2448T>G

5 papers

NM_001349253.2

p.N816K

c.2448T>A

1 paper

NM_001349253.2

p.N804D

c.2410A>G

1 paper

NM_001349253.2

p.E818K

c.2452G>A

1 paper

NM_001349253.2

p.E818A

c.2453A>C

1 paper

NM_001349253.2

p.R819I

c.2456G>T