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.A344G

c.1031C>G

Surrounding Variants

8 papers

NM_000335.5

p.A344V

c.1031C>T

2 papers

NM_000335.5

p.A344E

c.1031C>A

1 paper

NM_000335.5

p.K343delFs

c.1029delC

2 papers

NM_000335.5

p.A344S

c.1030G>T

2 papers

NM_000335.5

p.K343N

c.1029G>T

3 papers

NM_000335.5

p.G345R

c.1033G>C

2 papers

NM_000335.5

p.K343N

c.1029G>C

1 paper

NM_000335.5

p.G345D

c.1034G>A

1 paper

NM_000335.5

p.G345G

c.1035C>T

1 paper

NM_000335.5

p.C341_L342del2

c.1021_1025del6

5 papers

NM_000335.5

p.E346*

c.1036G>T

4 papers

NM_000335.5

p.E346K

c.1036G>A