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

158 papers

NM_000335.5

p.S1103Y

c.3308C>A

Surrounding Variants

1 paper

NM_000335.5

p.S1103A

c.3307T>G

1 paper

NM_000335.5

p.E1104*

c.3310G>T

1 paper

NM_000335.5

p.S1102F

c.3305C>T

82 papers

NM_000335.5

p.S1102Y

c.3305C>A

NM_198056.3

p.S1103Y

c.3308C>A

2 papers

NM_198056.3

p.A1106S

c.3316G>T

NM_000335.5

p.A1105S

c.3313G>T

1 paper

NM_198056.3

p.A1102D

c.3305C>A

1 paper

NM_000335.5

p.T1100_A1101insFs

c.3300_3301insAA

2 papers

NM_000335.5

p.E1106*

c.3316G>T

4 papers

NM_198056.3

p.A1106insFs

c.3318dupC

NM_000335.5

p.A1105insFs

c.3315dupC

1 paper

NM_000335.5

p.E1106Q

c.3316G>C

3 papers

NM_198056.3

p.E1107K

c.3319G>A

2 papers

NM_000335.5

p.T1100I

c.3299C>T