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.E405V

c.1214A>T

Surrounding Variants

1 paper

NM_001349253.2

p.E404K

c.1210G>A

1 paper

NM_001349253.2

p.T400N

c.1199C>A

7 papers

NM_001349253.2

p.L396P

c.1187T>C

1 paper

NM_001349253.2

p.E415D

c.1245G>T

1 paper

NM_001349253.2

p.E415D

c.1245G>C

1 paper

NM_001349253.2

p.K417*

c.1249A>T

7 papers

NM_001349253.2

p.K419N

c.1257G>T

7 papers

NM_001349253.2

p.K419N

c.1257G>C

1 paper

NM_001349253.2

p.I381S

c.1142T>G

20 papers

NM_001349253.2

p.I381T

c.1142T>C

1 paper

NM_001349253.2

p.K429T

c.1286A>C

1 paper

NM_001349253.2

p.I381V

c.1141A>G