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.Q150R

c.449A>G

Surrounding Variants

1 paper

NM_000335.5

p.Q150insFs

c.448_449insG

3 papers

NM_000335.5

p.A149V

c.446C>T

1 paper

NM_000335.5

p.H151R

c.452A>G

4 papers

NM_000335.5

p.H151H

c.453C>T

2 papers

NM_000335.5

p.D152N

c.454G>A

1 paper

NM_000335.5

p.H151delFs

c.453delG

1 paper

NM_000335.5

p.M148_H151del4

c.442_452del12

1 paper

NM_000335.5

p.D152A

c.455A>C

1 paper

NM_000335.5

p.P153A

c.457C>G

1 paper

NM_000335.5

p.F147L

c.441C>A

3 papers

NM_000335.5

p.V146M

c.436G>A

1 paper

NM_000335.5

p.C145C

c.435C>T