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.L6*

c.17T>A

Surrounding Variants

1 paper

NM_000335.5

p.P7fs

c.19_20fs

2 papers

NM_000335.5

p.L5insFs

c.14_15insC

1 paper

NM_000335.5

p.L5Q

c.14T>A

1 paper

NM_000335.5

p.P7L

c.20C>T

1 paper

NM_000335.5

p.L6_P7insFs

c.18_19ins23

1 paper

NM_000335.5

p.P7delFs

c.20delG

1 paper

NM_000335.5

p.L5L

c.13C>T

1 paper

NM_000335.5

p.A2_F4del0

c.4_12del9

1 paper

NM_000335.5

p.R8fs

c.22_23fs

1 paper

NM_000335.5

p.F4F

c.12C>T

2 papers

NM_000335.5

p.F4insFs

c.11dupT

2 papers

NM_000335.5

p.A2_F4delFs

c.4_11del8