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.K443N

c.1329A>T

Surrounding Variants

1 paper

NM_000335.5

p.K443R

c.1328A>G

1 paper

NM_000335.5

p.E444D

c.1332A>T

1 paper

NM_000335.5

p.E444D

c.1332A>C

1 paper

NM_000335.5

p.E444fs

c.1330_1331fs

1 paper

NM_000335.5

p.E444delFs

c.1330_1331delTC

1 paper

NM_000335.5

p.H445Y

c.1333C>T

18 papers

NM_000335.5

p.H445D

c.1333C>G

1 paper

NM_000335.5

p.K442M

c.1325A>T

2 papers

NM_000335.5

p.K442R

c.1325A>G

1 paper

NM_000335.5

p.K442E

c.1324A>G

1 paper

NM_000335.5

p.K442Q

c.1324A>C

22 papers

NM_000335.5

p.E446K

c.1336G>A