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.R43R

c.127C>A

Surrounding Variants

5 papers

NM_000335.5

p.R43*

c.127C>T

16 papers

NM_000335.5

p.R43Q

c.128G>A

1 paper

NM_000335.5

p.E44Q

c.130G>C

1 paper

NM_000335.5

p.E41A

c.122A>C

1 paper

NM_000335.5

p.G45R

c.133G>C

1 paper

NM_000335.5

p.E41Q

c.121G>C

1 paper

NM_000335.5

p.G45R

c.133G>A

2 papers

NM_000335.5

p.G45E

c.134G>A

1 paper

NM_000335.5

p.Q40*

c.118C>T

1 paper

NM_000335.5

p.L46V

c.136C>G

1 paper

NM_000335.5

p.Q40E

c.118C>G

1 paper

NM_000335.5

p.L46Q

c.137T>A