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.I848V

c.2542A>G

Surrounding Variants

2 papers

NM_000335.5

p.I848F

c.2542A>T

1 paper

NM_000335.5

p.A847delFs

c.2540delG

6 papers

NM_000335.5

p.I848T

c.2543T>C

2 papers

NM_000335.5

p.I848fs

c.2542_2543fs

3 papers

NM_000335.5

p.I849N

c.2546T>A

8 papers

NM_000335.5

p.L846R

c.2537T>G

1 paper

NM_000335.5

p.I849fs

c.2545_2546fs

1 paper

NM_000335.5

p.V850M

c.2548G>A

1 paper

NM_000335.5

p.L846I

c.2536C>A

1 paper

NM_000335.5

p.V845fs

c.2533_2534fs

3 papers

NM_000335.5

p.V845delFs

c.2533delC

1 paper

NM_000335.5

p.V850fs

c.2548_2549fs