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

2 papers

NM_000335.5

p.F434F

c.1302C>T

Surrounding Variants

3 papers

NM_000335.5

p.Q435L

c.1304A>T

2 papers

NM_000335.5

p.E436K

c.1306G>A

2 papers

NM_000335.5

p.R433H

c.1298G>A

3 papers

NM_000335.5

p.R433C

c.1297C>T

1 paper

NM_000335.5

p.E436_A437insFs

c.1308_1309ins7

1 paper

NM_000335.5

p.K432R

c.1295A>G

5 papers

NM_000335.5

p.K432E

c.1294A>G

2 papers

NM_000335.5

p.M438L

c.1312A>T

2 papers

NM_000335.5

p.M438L

c.1312A>C

1 paper

NM_000335.5

p.M438K

c.1313T>A

2 papers

NM_000335.5

p.E431K

c.1291G>A

2 papers

NM_000335.5

p.E439*

c.1315G>T