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.T17A

c.49A>G

Surrounding Variants

2 papers

NM_000335.5

p.T17S

c.49A>T

2 papers

NM_000335.5

p.T17I

c.50C>T

1 paper

NM_000335.5

p.F16L

c.48C>G

1 paper

NM_000335.5

p.F16L

c.48C>A

1 paper

NM_000335.5

p.F16L

c.46T>C

1 paper

NM_000335.5

p.R15delFs

c.44delC

16 papers

NM_000335.5

p.R18W

c.52C>T

1 paper

NM_000335.5

p.R15S

c.45G>C

14 papers

NM_000335.5

p.R18Q

c.53G>A

1 paper

NM_000335.5

p.R15R

c.45G>A

2 papers

NM_000335.5

p.R15T

c.44G>C

2 papers

NM_000335.5

p.E19*

c.55G>T