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

42 papers

NM_000335.5

p.R689H

c.2066G>A

Surrounding Variants

7 papers

NM_000335.5

p.R689C

c.2065C>T

7 papers

NM_000335.5

p.A691T

c.2071G>A

26 papers

NM_000335.5

p.Q692K

c.2074C>A

6 papers

NM_000335.5

p.R693C

c.2077C>T

1 paper

NM_000335.5

p.P684insFs

c.2052dupA

1 paper

NM_000335.5

p.R693delFs

c.2078delC

5 papers

NM_000335.5

p.C683G

c.2047T>G

2 papers

NM_000335.5

p.C683R

c.2047T>C

1 paper

NM_000335.5

p.K682delFs

c.2044delT

2 papers

NM_000335.5

p.W697*

c.2090G>A

1 paper

NM_000335.5

p.H681L

c.2042A>T

22 papers

NM_000335.5

p.H681P

c.2042A>C