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.L212R

c.635T>G

Surrounding Variants

23 papers

NM_000335.5

p.L212P

c.635T>C

3 papers

NM_000335.5

p.L212Q

c.635T>A

1 paper

NM_000335.5

p.L212M

c.634C>A

1 paper

NM_000335.5

p.G213S

c.637G>A

23 papers

NM_000335.5

p.G213D

c.638G>A

3 papers

NM_000335.5

p.D211G

c.632A>G

2 papers

NM_000335.5

p.D211A

c.632A>C

1 paper

NM_000335.5

p.D211Y

c.631G>T

1 paper

NM_000335.5

p.D211N

c.631G>A

1 paper

NM_000335.5

p.G213G

c.639C>T

4 papers

NM_000335.5

p.V210V

c.630G>A

4 papers

NM_000335.5

p.V210A

c.629T>C