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

52 papers

NM_000335.5

p.R376H

c.1127G>A

Surrounding Variants

3 papers

NM_000335.5

p.R376L

c.1127G>T

11 papers

NM_000335.5

p.R376C

c.1126C>T

1 paper

NM_000335.5

p.R376delins

c.1127_1128delinsAT

1 paper

NM_000335.5

p.L377F

c.1129C>T

3 papers

NM_000335.5

p.E375*

c.1123G>T

1 paper

NM_000335.5

p.W374_E375insFs

c.1122_1123insC

1 paper

NM_000335.5

p.W374*

c.1122G>A

2 papers

NM_000335.5

p.W374*

c.1121G>A

1 paper

NM_000335.5

p.Y378F

c.1133A>T

6 papers

NM_000335.5

p.W374G

c.1120T>G

1 paper

NM_000335.5

p.W374R

c.1120T>C

1 paper

NM_000335.5

p.W374R

c.1120T>A