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.A920E

c.2759C>A

Surrounding Variants

2 papers

NM_001349253.2

p.A920V

c.2759C>T

1 paper

NM_001349253.2

p.E921*

c.2761G>T

1 paper

NM_001349253.2

p.R910M

c.2729G>T

1 paper

NM_001349253.2

p.V909F

c.2725G>T

10 papers

NM_001349253.2

p.V909I

c.2725G>A

1 paper

NM_001349253.2

p.D932H

c.2794G>C

1 paper

NM_001349253.2

p.Q935L

c.2804A>T

1 paper

NM_001349253.2

p.Q935P

c.2804A>C

1 paper

NM_001349253.2

p.R936L

c.2807G>T

1 paper

NM_001349253.2

p.T901T

c.2703C>T

1 paper

NM_001349253.2

p.G898V

c.2693G>T

1 paper

NM_001349253.2

p.G898S

c.2692G>A