Varaico: Literature-Extracted Genetic Variants

SCN5A

2,996 papers

RefSeq Summary

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible f...

Pfam Domains

Ion_transaa 130–423UCSCIon transport protein

Na_trans_cytoplaa 507–667UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 716–949UCSCIon transport protein

Na_trans_assocaa 953–1200UCSCSodium ion transport-associated

Ion_transaa 1204–1481UCSCIon transport protein

Ion_transaa 1527–1783UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 5

HGNC Previous Symbol

CMD1E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000335.5

p.N592S

c.1775A>G

Surrounding Variants

1 paper

NM_000335.5

p.N592I

c.1775A>T

10 papers

NM_000335.5

p.N592K

c.1776C>G

10 papers

NM_000335.5

p.N592K

c.1776C>A

1 paper

NM_000335.5

p.N592delFs

c.1775delT

1 paper

NM_000335.5

p.S593C

c.1777A>T

1 paper

NM_000335.5

p.S593G

c.1777A>G

2 papers

NM_000335.5

p.K591M

c.1772A>T

2 papers

NM_000335.5

p.T594A

c.1780A>G

2 papers

NM_000335.5

p.K590Q

c.1768A>C

1 paper

NM_000335.5

p.V595L

c.1783G>C

10 papers

NM_000335.5

p.G589D

c.1766G>A

12 papers

NM_000335.5

p.H588R

c.1763A>G