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.I894N

c.2681T>A

Surrounding Variants

1 paper

NM_000335.5

p.I894insFs

c.2681_2682ins4

1 paper

NM_000335.5

p.L895H

c.2684T>A

2 papers

NM_000335.5

p.R893L

c.2678G>T

22 papers

NM_000335.5

p.R893H

c.2678G>A

16 papers

NM_000335.5

p.R893C

c.2677C>T

8 papers

NM_000335.5

p.C896S

c.2686T>A

1 paper

NM_000335.5

p.F892C

c.2675T>G

8 papers

NM_000335.5

p.C896S

c.2687G>C

13 papers

NM_000335.5

p.F892I

c.2674T>A

1 paper

NM_000335.5

p.G897R

c.2689G>C

1 paper

NM_000335.5

p.G897R

c.2689G>A

4 papers

NM_000335.5

p.G897E

c.2690G>A