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

5 papers

NM_000335.5

p.M858L

c.2572A>C

Surrounding Variants

5 papers

NM_000335.5

p.M858L

c.2572A>T

1 paper

NM_000335.5

p.M858K

c.2573T>A

1 paper

NM_000335.5

p.V856_G857insFs

c.2568_2569insG

1 paper

NM_000335.5

p.Q859*

c.2575C>T

2 papers

NM_000335.5

p.I852_V855del4

c.2554_2564del12

1 paper

NM_000335.5

p.V855V

c.2565G>A

1 paper

NM_000335.5

p.F861L

c.2581T>C

2 papers

NM_000335.5

p.F861fs

c.2581_2582fs

3 papers

NM_000335.5

p.F861fs

c.2581_2582fs

1 paper

NM_000335.5

p.F861L

c.2583T>G

1 paper

NM_000335.5

p.F861L

c.2583T>A

3 papers

NM_000335.5

p.F853delFs

c.2559delA