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.N740delFs

c.2218delT

Surrounding Variants

3 papers

NM_000335.5

p.N740del1

c.2218_2219delGTT

4 papers

NM_000335.5

p.Y739D

c.2215T>G

1 paper

NM_000335.5

p.M741_T742del1

c.2223_2225delGTC

2 papers

NM_000335.5

p.H738P

c.2213A>C

1 paper

NM_000335.5

p.H738Y

c.2212C>T

1 paper

NM_000335.5

p.E737E

c.2211G>A

1 paper

NM_000335.5

p.E737G

c.2210A>G

2 papers

NM_000335.5

p.E737A

c.2210A>C

1 paper

NM_000335.5

p.E737K

c.2209G>A

1 paper

NM_000335.5

p.E744A

c.2231A>C

2 papers

NM_000335.5

p.L736P

c.2207T>C

12 papers

NM_000335.5

p.E746K

c.2236G>A