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

2 papers

NM_000335.5

p.R1174C

c.3520C>T

Surrounding Variants

1 paper

NM_000335.5

p.R1174H

c.3521G>A

1 paper

NM_000335.5

p.R1173P

c.3518G>C

1 paper

NM_000335.5

p.R1173Q

c.3518G>A

1 paper

NM_000335.5

p.C1175S

c.3523T>A

1 paper

NM_198056.3

p.R1174W

c.3520C>T

1 paper

NM_000335.5

p.C1175S

c.3524G>C

2 papers

NM_000335.5

p.C1175Y

c.3524G>A

1 paper

NM_198056.3

p.P1177R

c.3530C>G

1 paper

NM_000335.5

p.C1171Y

c.3512G>A

1 paper

NM_000335.5

p.P1176delFs

c.3528delG

1 paper

NM_000335.5

p.G1170V

c.3509G>T

1 paper

NM_000335.5

p.C1178Y

c.3533G>A