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.N214S

c.641A>G

Surrounding Variants

2 papers

NM_000335.5

p.V215L

c.643G>C

1 paper

NM_000335.5

p.G213G

c.639C>T

1 paper

NM_000335.5

p.V215G

c.644T>G

1 paper

NM_000335.5

p.V215A

c.644T>C

23 papers

NM_000335.5

p.G213D

c.638G>A

1 paper

NM_000335.5

p.G213S

c.637G>A

1 paper

NM_000335.5

p.L212R

c.635T>G

23 papers

NM_000335.5

p.L212P

c.635T>C

3 papers

NM_000335.5

p.L212Q

c.635T>A

70 papers

NM_000335.5

p.S216L

c.647C>T

1 paper

NM_000335.5

p.L212M

c.634C>A

3 papers

NM_000335.5

p.D211G

c.632A>G