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

3 papers

NM_000335.5

p.G983D

c.2948G>A

Surrounding Variants

1 paper

NM_000335.5

p.L984V

c.2950C>G

1 paper

NM_000335.5

p.C982Y

c.2945G>A

7 papers

NM_000335.5

p.C982R

c.2944T>C

1 paper

NM_000335.5

p.G983_L984insFs

c.2947_2951dup5

1 paper

NM_000335.5

p.C981insFs

c.2942_2943ins10

1 paper

NM_000335.5

p.L985fs

c.2953_2954fs

2 papers

NM_000335.5

p.C981*

c.2943C>A

1 paper

NM_000335.5

p.L985insFs

c.2953_2954insC

5 papers

NM_000335.5

p.C981F

c.2942G>T

1 paper

NM_000335.5

p.C981fs

c.2941_2942fs

6 papers

NM_000335.5

p.R986W

c.2956C>T

8 papers

NM_000335.5

p.R986Q

c.2957G>A