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

58 papers

NM_000335.5

p.R878C

c.2632C>T

Surrounding Variants

3 papers

NM_000335.5

p.R878L

c.2633G>T

9 papers

NM_000335.5

p.R878H

c.2633G>A

4 papers

NM_000335.5

p.W879R

c.2635T>C

3 papers

NM_000335.5

p.W879R

c.2635T>A

1 paper

NM_000335.5

p.H880Y

c.2638C>T

1 paper

NM_000335.5

p.L875Q

c.2624T>A

4 papers

NM_000335.5

p.H880Q

c.2640C>G

4 papers

NM_000335.5

p.H880Q

c.2640C>A

2 papers

NM_000335.5

p.G874A

c.2621G>C

1 paper

NM_000335.5

p.G874S

c.2620G>A

2 papers

NM_000335.5

p.S873L

c.2618C>T

2 papers

NM_000335.5

p.S873*

c.2618C>G