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.K521delFs

c.1562delT

Surrounding Variants

3 papers

NM_000335.5

p.M520R

c.1559T>G

15 papers

NM_000335.5

p.R523C

c.1567C>T

1 paper

NM_000335.5

p.R523L

c.1568G>T

3 papers

NM_000335.5

p.R523P

c.1568G>C

2 papers

NM_000335.5

p.R523H

c.1568G>A

3 papers

NM_000335.5

p.M520V

c.1558A>G

1 paper

NM_000335.5

p.S519S

c.1557T>C

1 paper

NM_000335.5

p.R523R

c.1569T>A

2 papers

NM_000335.5

p.S524P

c.1570T>C

2 papers

NM_000335.5

p.S519F

c.1556C>T

1 paper

NM_000335.5

p.S524C

c.1571C>G

43 papers

NM_000335.5

p.S524Y

c.1571C>A