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.C1046G

c.3136T>G

Surrounding Variants

1 paper

NM_000335.5

p.V1045M

c.3133G>A

2 papers

NM_000335.5

p.P1044L

c.3131C>T

3 papers

NM_000335.5

p.P1048A

c.3142C>G

5 papers

NM_000335.5

p.V1047insFs

c.3140_3141dupTG

3 papers

NM_000335.5

p.P1048fs

c.3142_3143fs

2 papers

NM_000335.5

p.P1048insFs

c.3143_3144insTG

1 paper

NM_000335.5

p.V1047_P1048insFs

c.3141_3142dupGC

1 paper

NM_000335.5

p.P1048H

c.3143C>A

1 paper

NM_000335.5

p.P1042P

c.3126A>G

7 papers

NM_000335.5

p.A1050T

c.3148G>A

1 paper

NM_000335.5

p.D1041Y

c.3121G>T

5 papers

NM_000335.5

p.D1041N

c.3121G>A