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.E1063G

c.3188A>G

Surrounding Variants

1 paper

NM_000335.5

p.D1062fs

c.3184_3185fs

1 paper

NM_000335.5

p.E1064K

c.3190G>A

1 paper

NM_000335.5

p.D1062insFs

c.3184_3185insG

28 papers

NM_000335.5

p.E1061E

c.3183A>G

2 papers

NM_000335.5

p.E1061D

c.3183A>C

2 papers

NM_000335.5

p.E1064del1

c.3190_3191delCTC

1 paper

NM_000335.5

p.E1061*

c.3181G>T

4 papers

NM_000335.5

p.Q1059*

c.3175C>T

1 paper

NM_000335.5

p.D1057_D1058Fs

c.3171_3172delinsAFs

8 papers

NM_000335.5

p.T1069M

c.3206C>T

1 paper

NM_000335.5

p.D1057H

c.3169G>C

3 papers

NM_000335.5

p.D1055G

c.3164A>G