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

13 papers

NM_001349253.2

p.L1302F

c.3904C>T

Surrounding Variants

2 papers

NM_001349253.2

p.L1302P

c.3905T>C

4 papers

NM_001349253.2

p.I1293V

c.3877A>G

1 paper

NM_001349253.2

p.V1289I

c.3865G>A

1 paper

NM_001349253.2

p.L1283L

c.3849C>T

1 paper

NM_001349253.2

p.S1280R

c.3840C>G

1 paper

NM_001349253.2

p.S1280R

c.3840C>A

1 paper

NM_001349253.2

p.S1280R

c.3838A>C

1 paper

NM_001349253.2

p.E1273E

c.3819A>G

1 paper

NM_014139.3

p.E1271_K1272Splc

c.3813+1G>A

1 paper

NM_001349253.2

p.Y1264C

c.3791A>G

1 paper

NM_001349253.2

p.T1255A

c.3763A>G

2 papers

NM_001349253.2

p.A1249T

c.3745G>A