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.F1200L

c.3600T>G

Surrounding Variants

1 paper

NM_001349253.2

p.F1200L

c.3600T>A

1 paper

NM_001349253.2

p.F1200L

c.3598T>C

1 paper

NM_001349253.2

p.Y1198H

c.3592T>C

1 paper

NM_001349253.2

p.F1204L

c.3610T>C

1 paper

NM_001349253.2

p.K1206K

c.3618A>G

1 paper

NM_001349253.2

p.S1213*

c.3638C>G

1 paper

NM_001349253.2

p.S1213*

c.3638C>A

14 papers

NM_001349253.2

p.V1184A

c.3551T>C

1 paper

NM_001349253.2

p.A1177T

c.3529G>A

1 paper

NM_001349253.2

p.E1227Q

c.3679G>C

1 paper

NM_001349253.2

p.A1174S

c.3520G>T

5 papers

NM_001349253.2

p.N1169S

c.3506A>G