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

10 papers

NM_000335.5

p.P701L

c.2102C>T

Surrounding Variants

1 paper

NM_000335.5

p.P701delFs

c.2102delG

1 paper

NM_000335.5

p.W703ins1

c.2107_2108insAGG

1 paper

NM_000335.5

p.W703L

c.2108G>T

3 papers

NM_000335.5

p.W703*

c.2108G>A

1 paper

NM_000335.5

p.C699R

c.2095T>C

3 papers

NM_000335.5

p.W703*

c.2109G>A

2 papers

NM_000335.5

p.M704T

c.2111T>C

10 papers

NM_000335.5

p.E698*

c.2092G>T

2 papers

NM_000335.5

p.W697*

c.2091G>A

2 papers

NM_000335.5

p.W697*

c.2090G>A

3 papers

NM_000335.5

p.S705F

c.2114C>T

1 paper

NM_000335.5

p.I706_K707insFs

c.2118_2119insAA