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

16 papers

NM_000335.5

p.R340Q

c.1019G>A

Surrounding Variants

5 papers

NM_000335.5

p.R340W

c.1018C>T

1 paper

NM_000335.5

p.Y339Y

c.1017C>T

3 papers

NM_000335.5

p.Y339C

c.1016A>G

1 paper

NM_000335.5

p.C341*

c.1023C>A

1 paper

NM_000335.5

p.L342L

c.1024C>T

1 paper

NM_000335.5

p.G338G

c.1014C>T

1 paper

NM_000335.5

p.L342R

c.1025T>G

2 papers

NM_000335.5

p.L342P

c.1025T>C

1 paper

NM_000335.5

p.G338D

c.1013G>A

1 paper

NM_000335.5

p.G338C

c.1012G>T

1 paper

NM_000335.5

p.G338S

c.1012G>A

1 paper

NM_000335.5

p.C341_L342del2

c.1021_1025del6