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

2 papers

NM_000335.5

p.V411delFs

c.1233delC

Surrounding Variants

1 paper

NM_000335.5

p.V412I

c.1234G>A

2 papers

NM_000335.5

p.A413T

c.1237G>A

3 papers

NM_000335.5

p.A413E

c.1238C>A

57 papers

NM_000335.5

p.V411M

c.1231G>A

1 paper

NM_000335.5

p.L409_A410delFs

c.1226_1230del5

14 papers

NM_000335.5

p.L409P

c.1226T>C

1 paper

NM_000335.5

p.A415V

c.1244C>T

1 paper

NM_000335.5

p.L409fs

c.1225_1226fs

3 papers

NM_000335.5

p.L409V

c.1225C>G

1 paper

NM_000335.5

p.A415delFs

c.1243_1244delGC

7 papers

NM_000335.5

p.Y416C

c.1247A>G

2 papers

NM_000335.5

p.E417A

c.1250A>C