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.P1089P

c.3267G>C

Surrounding Variants

1 paper

NM_000335.5

p.D1090N

c.3268G>A

13 papers

NM_198056.3

p.P1090L

c.3269C>T

NM_000335.5

p.P1089L

c.3266C>T

1 paper

NM_000335.5

p.P1089Q

c.3266C>A

1 paper

NM_000335.5

p.S1091P

c.3271T>C

1 paper

NM_198056.3

p.P1089L

c.3266C>T

1 paper

NM_000335.5

p.P1088S

c.3262C>T

1 paper

NM_000335.5

p.E1086_A1087delFs

c.3258_3261del4

1 paper

NM_000335.5

p.A1087S

c.3259G>T

1 paper

NM_000335.5

p.A1087T

c.3259G>A

1 paper

NM_000335.5

p.T1093I

c.3278C>T

2 papers

NM_198056.3

p.W1095*

c.3284G>A

2 papers

NM_198056.3

p.W1095C

c.3285G>T

NM_000335.5

p.W1094C

c.3282G>T