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.R869G

c.2605A>G

Surrounding Variants

3 papers

NM_000335.5

p.L868delFs

c.2602delG

1 paper

NM_000335.5

p.D870H

c.2608G>C

7 papers

NM_000335.5

p.E867*

c.2599G>T

2 papers

NM_000335.5

p.E867Q

c.2599G>C

4 papers

NM_000335.5

p.S866L

c.2597C>T

7 papers

NM_000335.5

p.S871fs

c.2611_2612fs

1 paper

NM_000335.5

p.S866P

c.2596T>C

4 papers

NM_000335.5

p.D872N

c.2614G>A

1 paper

NM_000335.5

p.D872fs

c.2614_2615fs

2 papers

NM_000335.5

p.D872delFs

c.2616delG

2 papers

NM_000335.5

p.S873L

c.2618C>T

2 papers

NM_000335.5

p.S873*

c.2618C>G