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.I120V

c.358A>G

Surrounding Variants

1 paper

NM_000335.5

p.I120T

c.359T>C

1 paper

NM_000335.5

p.I120I

c.360C>A

40 papers

NM_000335.5

p.R121W

c.361C>T

8 papers

NM_000335.5

p.R121Q

c.362G>A

1 paper

NM_000335.5

p.I120_R121delFs

c.360_361delGG

3 papers

NM_000335.5

p.H118H

c.354C>T

1 paper

NM_000335.5

p.R122fs

c.364_365fs

1 paper

NM_000335.5

p.F117F

c.351C>T

1 paper

NM_000335.5

p.R122_A123Fs

c.366_367delinsCFs

2 papers

NM_000335.5

p.A123V

c.368C>T

1 paper

NM_000335.5

p.A123insFs

c.368_369insT

1 paper

NM_000335.5

p.A123E

c.368C>A