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.L917_V918del2

c.2749_2753del6

Surrounding Variants

1 paper

NM_000335.5

p.F919L

c.2755T>C

1 paper

NM_000335.5

p.F919L

c.2757C>G

1 paper

NM_000335.5

p.F919L

c.2757C>A

1 paper

NM_000335.5

p.L917_F919del3

c.2749_2756del9

2 papers

NM_000335.5

p.L917R

c.2750T>G

1 paper

NM_000335.5

p.C915R

c.2743T>C

1 paper

NM_000335.5

p.G911_V922delFs

c.2732_2766del35

1 paper

NM_000335.5

p.M923R

c.2768T>G

1 paper

NM_000335.5

p.V924insFs

c.2770_2771insT

7 papers

NM_000335.5

p.V924I

c.2770G>A

1 paper

NM_000335.5

p.I925_G926insFs

c.2775_2776insG

3 papers

NM_000335.5

p.Q912R

c.2735A>G