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.A944G

c.2831C>G

Surrounding Variants

1 paper

NM_000335.5

p.F942F

c.2826C>T

1 paper

NM_000335.5

p.N946Y

c.2836A>T

1 paper

NM_000335.5

p.D945delFs

c.2835delG

1 paper

NM_000335.5

p.F942Y

c.2825T>A

1 paper

NM_000335.5

p.L947F

c.2839C>T

1 paper

NM_000335.5

p.S941F

c.2822C>T

1 paper

NM_000335.5

p.S941delins

c.2821_2822delinsAA

1 paper

NM_000335.5

p.S940N

c.2819G>A

1 paper

NM_000335.5

p.L939P

c.2816T>C

2 papers

NM_000335.5

p.L939F

c.2815C>T

2 papers

NM_000335.5

p.P950S

c.2848C>T

1 paper

NM_000335.5

p.L938P

c.2813T>C