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.V258I

c.772G>A

Surrounding Variants

3 papers

NM_000335.5

p.V258A

c.773T>C

1 paper

NM_000335.5

p.T257R

c.770C>G

1 paper

NM_000335.5

p.F259I

c.775T>A

2 papers

NM_000335.5

p.L256del1

c.766_767delGAG

1 paper

NM_000335.5

p.V253_L256del4

c.757_767del12

1 paper

NM_000335.5

p.V255I

c.763G>A

1 paper

NM_000335.5

p.S262G

c.784A>G

1 paper

NM_000335.5

p.S262N

c.785G>A

1 paper

NM_000335.5

p.S262delFs

c.785delC

1 paper

NM_000335.5

p.V263L

c.787G>C

3 papers

NM_000335.5

p.V263I

c.787G>A

1 paper

NM_000335.5

p.D252N

c.754G>A