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

16 papers

NM_000335.5

p.Q646delFs

c.1936delG

Surrounding Variants

1 paper

NM_000335.5

p.Q646R

c.1937A>G

5 papers

NM_000335.5

p.Q646fs

c.1936_1937fs

6 papers

NM_000335.5

p.Q646fs

c.1936_1937fs

1 paper

NM_000335.5

p.A647V

c.1940C>T

8 papers

NM_000335.5

p.A647D

c.1940C>A

1 paper

NM_000335.5

p.S645A

c.1933T>G

1 paper

NM_000335.5

p.P648S

c.1942C>T

1 paper

NM_000335.5

p.T644T

c.1932C>T

1 paper

NM_000335.5

p.T644fs

c.1930_1931fs

22 papers

NM_000335.5

p.P648L

c.1943C>T

1 paper

NM_000335.5

p.P648Q

c.1943C>A

1 paper

NM_000335.5

p.T644N

c.1931C>A