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.K1075N

c.3225G>T

Surrounding Variants

1 paper

NM_000335.5

p.K1075N

c.3225G>C

1 paper

NM_000335.5

p.Q1076*

c.3226C>T

1 paper

NM_000335.5

p.Q1076K

c.3226C>A

1 paper

NM_000335.5

p.S1074R

c.3222C>G

1 paper

NM_000335.5

p.S1074R

c.3222C>A

1 paper

NM_000335.5

p.S1074N

c.3221G>A

1 paper

NM_000335.5

p.S1074R

c.3220A>C

1 paper

NM_000335.5

p.E1072A

c.3215A>C

3 papers

NM_000335.5

p.E1072*

c.3214G>T

1 paper

NM_000335.5

p.E1071fs

c.3211_3212fs

1 paper

NM_000335.5

p.E1071E

c.3213G>A

1 paper

NM_000335.5

p.E1071G

c.3212A>G