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

1–12 of 418 variants

41 papers

NM_001349253.2

p.L811P

c.2432T>C

26 papers

NM_001349253.2

p.R225C

c.673C>T

22 papers

NM_001349253.2

p.A808G

c.2423C>G

21 papers

NM_001349253.2

p.R222H

c.665G>A

21 papers

NM_001349253.2

p.L1158P

c.3473T>C

20 papers

NM_001349253.2

p.I381T

c.1142T>C

18 papers

NM_001349253.2

p.G699R

c.2095G>C

18 papers

NM_001349253.2

p.G699R

c.2095G>A

14 papers

NM_001349253.2

p.V1184A

c.3551T>C

13 papers

NM_001349253.2

p.R222S

c.664C>A

13 papers

NM_001349253.2

p.L1302F

c.3904C>T

10 papers

NM_001349253.2

p.A582T

c.1744G>A