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.D979A

c.2936A>C

Surrounding Variants

1 paper

NM_000335.5

p.D979E

c.2937T>G

1 paper

NM_000335.5

p.D979E

c.2937T>A

1 paper

NM_000335.5

p.D979N

c.2935G>A

2 papers

NM_000335.5

p.W978*

c.2934G>A

2 papers

NM_000335.5

p.W978*

c.2933G>A

1 paper

NM_000335.5

p.C981fs

c.2941_2942fs

5 papers

NM_000335.5

p.C981F

c.2942G>T

2 papers

NM_000335.5

p.C981*

c.2943C>A

7 papers

NM_000335.5

p.C982R

c.2944T>C

1 paper

NM_000335.5

p.C982Y

c.2945G>A

1 paper

NM_000335.5

p.R975P

c.2924G>C

4 papers

NM_000335.5

p.R975Q

c.2924G>A