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

81 papers

NM_000335.5

p.R814W

c.2440C>T

Surrounding Variants

1 paper

NM_000335.5

p.R814G

c.2440C>G

46 papers

NM_000335.5

p.R814Q

c.2441G>A

1 paper

NM_000335.5

p.V815I

c.2443G>A

1 paper

NM_000335.5

p.L812_L813Splc

c.2437-2A>C

5 papers

NM_000335.5

p.F816Y

c.2447T>A

9 papers

NM_000335.5

p.L812_L813Splc

c.2437-5C>A

8 papers

NM_000335.5

p.K817E

c.2449A>G

1 paper

NM_000335.5

p.L812_L813Splc

c.2437-7T>C

1 paper

NM_000335.5

p.K817R

c.2450A>G

1 paper

NM_000335.5

p.L813_K817del0

c.2437_2451del15

1 paper

NM_000335.5

p.L812_L813Splc

c.2437-13C>T

1 paper

NM_000335.5

p.K820*

c.2458A>T