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

13 papers

NM_000335.5

p.E901K

c.2701G>A

Surrounding Variants

1 paper

NM_000335.5

p.E901*

c.2701G>T

1 paper

NM_000335.5

p.E901D

c.2703G>T

1 paper

NM_000335.5

p.E901D

c.2703G>C

1 paper

NM_000335.5

p.T902delFs

c.2705delG

1 paper

NM_000335.5

p.E898A

c.2693A>C

3 papers

NM_000335.5

p.W904*

c.2711G>A

4 papers

NM_000335.5

p.G897E

c.2690G>A

3 papers

NM_000335.5

p.W904*

c.2712G>A

1 paper

NM_000335.5

p.G897R

c.2689G>C

1 paper

NM_000335.5

p.D905N

c.2713G>A

1 paper

NM_000335.5

p.G897R

c.2689G>A

8 papers

NM_000335.5

p.C896S

c.2687G>C