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.V300V

c.900C>A

Surrounding Variants

5 papers

NM_000335.5

p.W301*

c.902G>A

2 papers

NM_000335.5

p.V300I

c.898G>A

1 paper

NM_000335.5

p.L299_V300del2

c.895_899del6

1 paper

NM_000335.5

p.L299F

c.897G>C

5 papers

NM_000335.5

p.W301*

c.903G>A

1 paper

NM_000335.5

p.E302K

c.904G>A

6 papers

NM_000335.5

p.L299M

c.895T>A

1 paper

NM_000335.5

p.E302G

c.905A>G

1 paper

NM_000335.5

p.S303fs

c.907_908fs

41 papers

NM_000335.5

p.G298S

c.892G>A

1 paper

NM_000335.5

p.S303delFs

c.908delG

1 paper

NM_000335.5

p.D297N

c.889G>A