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

2 papers

NM_000335.5

p.T165T

c.495C>T

Surrounding Variants

6 papers

NM_000335.5

p.A166T

c.496G>A

3 papers

NM_000335.5

p.I167I

c.501T>C

1 paper

NM_000335.5

p.T163I

c.488C>T

1 paper

NM_000335.5

p.Y168F

c.503A>T

1 paper

NM_000335.5

p.T163A

c.487A>G

1 paper

NM_000335.5

p.Y162delFs

c.486delG

1 paper

NM_000335.5

p.Y162Y

c.486C>T

1 paper

NM_000335.5

p.Y162F

c.485A>T

1 paper

NM_000335.5

p.Y162D

c.484T>G

1 paper

NM_000335.5

p.E161E

c.483G>A

1 paper

NM_000335.5

p.T169fs

c.505_506fs

1 paper

NM_000335.5

p.T169T

c.507C>A