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

20 papers

NM_000335.5

p.N406S

c.1217A>G

Surrounding Variants

44 papers

NM_000335.5

p.N406K

c.1218C>G

44 papers

NM_000335.5

p.N406K

c.1218C>A

2 papers

NM_000335.5

p.N406D

c.1216A>G

1 paper

NM_000335.5

p.L404insFs

c.1211dupT

1 paper

NM_000335.5

p.L404L

c.1212G>A

4 papers

NM_000335.5

p.L404Q

c.1211T>A

1 paper

NM_000335.5

p.L409fs

c.1225_1226fs

3 papers

NM_000335.5

p.L409V

c.1225C>G

14 papers

NM_000335.5

p.L409P

c.1226T>C

1 paper

NM_000335.5

p.S401insFs

c.1202_1203insC

57 papers

NM_000335.5

p.V411M

c.1231G>A

1 paper

NM_000335.5

p.L409_A410delFs

c.1226_1230del5