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

49 papers

NM_000335.5

p.L567Q

c.1700T>A

Surrounding Variants

1 paper

NM_000335.5

p.L567P

c.1700T>C

1 paper

NM_000335.5

p.L567L

c.1701G>T

1 paper

NM_000335.5

p.R568C

c.1702C>T

1 paper

NM_000335.5

p.R568G

c.1702C>G

1 paper

NM_000335.5

p.R568P

c.1703G>C

7 papers

NM_000335.5

p.R568H

c.1703G>A

1 paper

NM_000335.5

p.P566L

c.1697C>T

1 paper

NM_000335.5

p.P566T

c.1696C>A

2 papers

NM_000335.5

p.R569fs

c.1705_1706fs

11 papers

NM_000335.5

p.R569W

c.1705C>T

4 papers

NM_000335.5

p.R569G

c.1705C>G

2 papers

NM_000335.5

p.R569insFs

c.1705dupC