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

9 papers

NM_000335.5

p.A672T

c.2014G>A

Surrounding Variants

2 papers

NM_000335.5

p.S671delFs

c.2013delG

1 paper

NM_000335.5

p.S671S

c.2013C>T

1 paper

NM_000335.5

p.L673insFs

c.2017_2018insG

1 paper

NM_000335.5

p.S671G

c.2011A>G

1 paper

NM_000335.5

p.L673P

c.2018T>C

1 paper

NM_000335.5

p.E674G

c.2021A>G

1 paper

NM_000335.5

p.E675Splc

c.2023+1G>A

3 papers

NM_000335.5

p.R661_V668insFs

c.1983_2002dup20

2 papers

NM_000335.5

p.V668fs

c.2002_2003fs

1 paper

NM_000335.5

p.A665insFs

c.1993dupG

3 papers

NM_000335.5

p.R661_A665insFs

c.1983_1993dup11

8 papers

NM_000335.5

p.A665S

c.1993G>T