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

6 papers

NM_000335.5

p.C1004R

c.3010T>C

Surrounding Variants

1 paper

NM_000335.5

p.C1004fs

c.3010_3011fs

2 papers

NM_000335.5

p.P1002_C1004delFs

c.3005_3012del8

2 papers

NM_000335.5

p.I1005T

c.3014T>C

1 paper

NM_000335.5

p.P1002fs

c.3004_3005fs

1 paper

NM_000335.5

p.A1006_T1007insTA

c.3016_3020ins6

1 paper

NM_000335.5

p.P1002S

c.3004C>T

1 paper

NM_000335.5

p.P1002fs

c.3004_3005fs

1 paper

NM_000335.5

p.L1001delFs

c.3002delA

1 paper

NM_000335.5

p.T1007I

c.3020C>T

1 paper

NM_000335.5

p.Q1000L

c.2999A>T

7 papers

NM_000335.5

p.P1008S

c.3022C>T

2 papers

NM_000335.5

p.Q1000*

c.2998C>T