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.A361V

c.1082C>T

Surrounding Variants

1 paper

NM_000335.5

p.F362ins2

c.1084_1085ins6

1 paper

NM_000335.5

p.W360_A361del2

c.1078_1082del6

1 paper

NM_000335.5

p.F358_W360del0

c.1073_1078del6

1 paper

NM_000335.5

p.L363F

c.1087C>T

1 paper

NM_000335.5

p.L363I

c.1087C>A

1 paper

NM_000335.5

p.A359D

c.1076C>A

1 paper

NM_000335.5

p.F358S

c.1073T>C

2 papers

NM_000335.5

p.A364V

c.1091C>T

2 papers

NM_000335.5

p.L365F

c.1093C>T

2 papers

NM_000335.5

p.S357C

c.1070C>G

1 paper

NM_000335.5

p.D356D

c.1068T>C

3 papers

NM_000335.5

p.F366S

c.1097T>C