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.P992P

c.2976C>T

Surrounding Variants

6 papers

NM_000335.5

p.A993T

c.2977G>A

1 paper

NM_000335.5

p.L995F

c.2983C>T

1 paper

NM_000335.5

p.L995L

c.2985T>G

33 papers

NM_000335.5

p.A997S

c.2989G>T

21 papers

NM_000335.5

p.A997T

c.2989G>A

5 papers

NM_000335.5

p.R988Q

c.2963G>A

4 papers

NM_000335.5

p.R988W

c.2962C>T

4 papers

NM_000335.5

p.A997D

c.2990C>A

1 paper

NM_000335.5

p.Q987H

c.2961G>T

1 paper

NM_000335.5

p.Q987H

c.2961G>C

1 paper

NM_000335.5

p.Q987delFs

c.2959_2960delTG

1 paper

NM_000335.5

p.Q998E

c.2992C>G