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

5 papers

NM_000335.5

p.P637L

c.1910C>T

Surrounding Variants

1 paper

NM_000335.5

p.P637delFs

c.1909delG

2 papers

NM_000335.5

p.G638D

c.1913G>A

1 paper

NM_000335.5

p.P637_G638delFs

c.1909_1912del4

2 papers

NM_000335.5

p.G638G

c.1914C>T

1 paper

NM_000335.5

p.G638G

c.1914C>G

5 papers

NM_000335.5

p.G639R

c.1915G>C

5 papers

NM_000335.5

p.G639R

c.1915G>A

2 papers

NM_000335.5

p.P640A

c.1918C>G

1 paper

NM_000335.5

p.P640L

c.1919C>T

1 paper

NM_000335.5

p.S634W

c.1901C>G

1 paper

NM_000335.5

p.S634P

c.1900T>C

2 papers

NM_000335.5

p.P640P

c.1920C>A