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

53 papers

NM_000335.5

p.T512I

c.1535C>T

Surrounding Variants

1 paper

NM_000335.5

p.R513fs

c.1537_1538fs

3 papers

NM_000335.5

p.R513C

c.1537C>T

1 paper

NM_000335.5

p.L511H

c.1532T>A

2 papers

NM_000335.5

p.R513P

c.1538G>C

5 papers

NM_000335.5

p.R513H

c.1538G>A

3 papers

NM_000335.5

p.R513delFs

c.1537delG

1 paper

NM_000335.5

p.L511F

c.1531C>T

50 papers

NM_000335.5

p.G514C

c.1540G>T

1 paper

NM_000335.5

p.G514_L515ins6

c.1540_1544ins18

1 paper

NM_000335.5

p.R517K

c.1550G>A

2 papers

NM_000335.5

p.S519F

c.1556C>T

1 paper

NM_000335.5

p.S519S

c.1557T>C