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.K100_F103delFs

c.298_307del10

Surrounding Variants

1 paper

NM_000335.5

p.F103I

c.307T>A

1 paper

NM_000335.5

p.F103delFs

c.307_308delAA

27 papers

NM_000335.5

p.R104W

c.310C>T

3 papers

NM_000335.5

p.R104G

c.310C>G

1 paper

NM_000335.5

p.R104L

c.311G>T

29 papers

NM_000335.5

p.R104Q

c.311G>A

1 paper

NM_000335.5

p.I102V

c.304A>G

2 papers

NM_000335.5

p.T101I

c.302C>T

1 paper

NM_000335.5

p.T101N

c.302C>A

1 paper

NM_000335.5

p.K100delFs

c.299_300delCT

1 paper

NM_000335.5

p.T101P

c.301A>C

3 papers

NM_000335.5

p.S106G

c.316A>G