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.T1196S

c.3587C>G

Surrounding Variants

1 paper

NM_000335.5

p.K1195N

c.3585G>T

3 papers

NM_001099404.2

p.R1195H

c.3584G>A

1 paper

NM_000335.5

p.L1193L

c.3579G>A

2 papers

NM_198056.3

p.H1200Y

c.3598C>T

44 papers

NM_198056.3

p.R1193Q

c.3578G>A

NM_001099404.2

p.R1192Q

c.3575G>A

4 papers

NM_000335.5

p.R1192W

c.3574C>T

1 paper

NM_000335.5

p.W1190_W1191del2

c.3568_3572del6

11 papers

NM_198056.3

p.W1192*

c.3576G>A

NM_000335.5

p.W1191*

c.3573G>A

1 paper

NM_198056.3

p.V1202M

c.3604G>A

12 papers

NM_198056.3

p.W1192*

c.3575G>A

NM_000335.5

p.W1191*

c.3572G>A

1 paper

NM_000335.5

p.E1202Q

c.3604G>C

2 papers

NM_198056.3

p.W1191*

c.3573G>A