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

13 papers

NM_001349253.2

p.R222S

c.664C>A

Surrounding Variants

3 papers

NM_001349253.2

p.R222C

c.664C>T

21 papers

NM_001349253.2

p.R222H

c.665G>A

1 paper

NM_001349253.2

p.P220L

c.659C>T

1 paper

NM_001349253.2

p.F224S

c.671T>C

26 papers

NM_001349253.2

p.R225C

c.673C>T

1 paper

NM_001349253.2

p.R225S

c.673C>A

1 paper

NM_001349253.2

p.R225L

c.674G>T

1 paper

NM_001349253.2

p.K217E

c.649A>G

1 paper

NM_001349253.2

p.I211M

c.633T>G

1 paper

NM_001349253.2

p.A232V

c.695C>T

1 paper

NM_001349253.2

p.S234P

c.700T>C

3 papers

NM_001349253.2

p.R238C

c.712C>T