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

1–12 of 3298 variants

410 papers

NM_000335.5

p.H558R

c.1673A>G

158 papers

NM_000335.5

p.S1103Y

c.3308C>A

133 papers

NM_000335.5

p.R222Q

c.665G>A

112 papers

NM_000335.5

p.E1053K

c.3157G>A

96 papers

NM_000335.5

p.R225W

c.673C>T

89 papers

NM_000335.5

p.T220I

c.659C>T

81 papers

NM_000335.5

p.R814W

c.2440C>T

79 papers

NM_000335.5

p.R367H

c.1100G>A

76 papers

NM_000335.5

p.A572D

c.1715C>A

70 papers

NM_000335.5

p.S216L

c.647C>T

70 papers

NM_000335.5

p.R282H

c.845G>A

66 papers

NM_000335.5

p.W156*

c.468G>A