Varaico: Literature-Extracted Genetic Variants

SCN11A

435 papers

RefSeq Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible fo...

Pfam Domains

Ion_transaa 128–411UCSCIon transport protein

Ion_transaa 576–822UCSCIon transport protein

Na_trans_assocaa 826–1051UCSCSodium ion transport-associated

Ion_transaa 1055–1319UCSCIon transport protein

Ion_transaa 1365–1615UCSCIon transport protein

IQ_SCN5A_Caa 1726–1760UCSCSCN5A-like, C-terminal IQ motif

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 11

HGNC Previous Symbol

SCN12A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001349253.2

p.V869M

c.2605G>A

Surrounding Variants

1 paper

NM_001349253.2

p.P882T

c.2644C>A

1 paper

NM_001349253.2

p.H855R

c.2564A>G

1 paper

NM_001349253.2

p.M887L

c.2659A>T

1 paper

NM_001349253.2

p.M887L

c.2659A>C

2 papers

NM_001349253.2

p.L850P

c.2549T>C

1 paper

NM_001349253.2

p.G890D

c.2669G>A

9 papers

NM_001349253.2

p.A842P

c.2524G>C

1 paper

NM_001349253.2

p.G898S

c.2692G>A

2 papers

NM_001349253.2

p.R840C

c.2518C>T

1 paper

NM_001349253.2

p.G898V

c.2693G>T

4 papers

NM_001349253.2

p.R838Q

c.2513G>A

1 paper

NM_001349253.2

p.R838*

c.2512C>T