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.T10I

c.29C>T

Surrounding Variants

1 paper

NM_000335.5

p.T10insFs

c.29_30ins20

1 paper

NM_000335.5

p.T10ins10

c.29_30ins30

1 paper

NM_000335.5

p.T10insFs

c.28_29insA

1 paper

NM_000335.5

p.T10N

c.29C>A

1 paper

NM_000335.5

p.T10A

c.28A>G

1 paper

NM_000335.5

p.G9_T10ins8

c.27_28ins24

1 paper

NM_000335.5

p.G9G

c.27C>T

1 paper

NM_000335.5

p.R8insFs

c.24dupG

1 paper

NM_000335.5

p.R8delFs

c.23delC

13 papers

NM_000335.5

p.G9V

c.26G>T

1 paper

NM_000335.5

p.G9R

c.25G>C

1 paper

NM_000335.5

p.G9S

c.25G>A