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.G538D

c.1613G>A

Surrounding Variants

1 paper

NM_000335.5

p.G538V

c.1613G>T

1 paper

NM_000335.5

p.G538R

c.1612G>C

1 paper

NM_000335.5

p.L537P

c.1610T>C

1 paper

NM_000335.5

p.D536delFs

c.1607_1608delGT

2 papers

NM_000335.5

p.D536H

c.1606G>C

14 papers

NM_000335.5

p.R535Q

c.1604G>A

42 papers

NM_000335.5

p.R535*

c.1603C>T

1 paper

NM_000335.5

p.F532_R534del3

c.1594_1601del9

2 papers

NM_000335.5

p.D542Y

c.1624G>T

2 papers

NM_000335.5

p.R534S

c.1602G>T

1 paper

NM_000335.5

p.D542A

c.1625A>C

5 papers

NM_000335.5

p.F543L

c.1627T>C