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

4 papers

NM_000335.5

p.E346V

c.1037A>T

Surrounding Variants

1 paper

NM_000335.5

p.E346G

c.1037A>G

1 paper

NM_000335.5

p.E346insFs

c.1036_1037insG

5 papers

NM_000335.5

p.E346*

c.1036G>T

4 papers

NM_000335.5

p.E346D

c.1038G>T

3 papers

NM_000335.5

p.E346D

c.1038G>C

4 papers

NM_000335.5

p.E346K

c.1036G>A

1 paper

NM_000335.5

p.G345delFs

c.1035delG

1 paper

NM_000335.5

p.E346fs

c.1036_1037fs

1 paper

NM_000335.5

p.G345G

c.1035C>T

1 paper

NM_000335.5

p.G345D

c.1034G>A

3 papers

NM_000335.5

p.G345R

c.1033G>C

3 papers

NM_000335.5

p.N347K

c.1041C>G