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_198056.3

p.S1079Y

c.3236C>A

Surrounding Variants

1 paper

NM_000335.5

p.Q1079R

c.3236A>G

5 papers

NM_198056.3

p.Q1077del1

c.3229_3230delCTG

1 paper

NM_198056.3

p.V1082A

c.3245T>C

1 paper

NM_000335.5

p.Q1076_E1077Splc

c.3229-10T>C

1 paper

NM_001099404.2

p.G1084R

c.3250G>C

2 papers

NM_001099404.2

p.G1084S

c.3250G>A

2 papers

NM_000335.5

p.G1083D

c.3248G>A

1 paper

NM_000335.5

p.G1084_P1085ins6

c.3250_3254ins18

1 paper

NM_000335.5

p.G1084R

c.3250G>C

8 papers

NM_000335.5

p.G1084S

c.3250G>A

1 paper

NM_000335.5

p.G1084D

c.3251G>A

1 paper

NM_000335.5

p.A1087S

c.3259G>T