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

3 papers

NM_000335.5

p.Q419*

c.1255C>T

Surrounding Variants

3 papers

NM_000335.5

p.Q419P

c.1256A>C

1 paper

NM_000335.5

p.E418Q

c.1252G>C

1 paper

NM_000335.5

p.N420D

c.1258A>G

1 paper

NM_000335.5

p.N420insFs

c.1258_1259insA

2 papers

NM_000335.5

p.E417A

c.1250A>C

7 papers

NM_000335.5

p.Y416C

c.1247A>G

4 papers

NM_000335.5

p.A422T

c.1264G>A

1 paper

NM_000335.5

p.A415delFs

c.1243_1244delGC

1 paper

NM_000335.5

p.A415V

c.1244C>T

1 paper

NM_000335.5

p.I424M

c.1272C>G

3 papers

NM_000335.5

p.A413E

c.1238C>A

2 papers

NM_000335.5

p.A425T

c.1273G>A