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.K26M

c.77A>T

Surrounding Variants

1 paper

NM_000335.5

p.K26Q

c.76A>C

3 papers

NM_000335.5

p.R27C

c.79C>T

1 paper

NM_000335.5

p.R27S

c.79C>A

31 papers

NM_000335.5

p.R27H

c.80G>A

1 paper

NM_000335.5

p.E25G

c.74A>G

4 papers

NM_000335.5

p.E25K

c.73G>A

1 paper

NM_000335.5

p.I24_E25Fs

c.72_73delinsAFs

1 paper

NM_000335.5

p.R27R

c.81C>T

1 paper

NM_000335.5

p.R27insFs

c.80_81insGG

1 paper

NM_000335.5

p.I24I

c.72C>T

1 paper

NM_000335.5

p.M28L

c.82A>T

1 paper

NM_000335.5

p.M28L

c.82A>C