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

34 papers

NM_000335.5

p.Q380_T381Splc

c.1141-3C>A

Surrounding Variants

3 papers

NM_000335.5

p.Q380_T381Splc

c.1141-2A>G

1 paper

NM_000335.5

p.T381A

c.1141A>G

1 paper

NM_000335.5

p.T381I

c.1142C>T

2 papers

NM_000335.5

p.L382F

c.1144C>T

1 paper

NM_000335.5

p.Q380_T381Splc

c.1141-9C>G

1 paper

NM_000335.5

p.Q380_T381Splc

c.1141-12T>G

2 papers

NM_000335.5

p.R383_S384insFs

c.1149_1150insT

1 paper

NM_000335.5

p.S384T

c.1150T>A

1 paper

NM_000335.5

p.S384S

c.1152C>T

7 papers

NM_000335.5

p.A385T

c.1153G>A

1 paper

NM_000335.5

p.Q380_T381Splc

c.1141-20C>T

1 paper

NM_000335.5

p.A385A

c.1155A>T