Varaico: Literature-Extracted Genetic Variants

SCN2A

1,166 papers

RefSeq Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one ...

Pfam Domains

Ion_transaa 128–436UCSCIon transport protein

Na_trans_cytoplaa 558–709UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 758–994UCSCIon transport protein

Na_trans_assocaa 997–1203UCSCSodium ion transport-associated

Ion_transaa 1207–1484UCSCIon transport protein

Ion_transaa 1530–1787UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 2

HGNC Previous Symbols

SCN2A1; SCN2A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001040142.2

p.S4T

c.10T>A

Surrounding Variants

1 paper

NM_001040142.2

p.S4L

c.11C>T

2 papers

NM_001040142.2

p.Q3R

c.8A>G

3 papers

NM_001040142.2

p.Q3*

c.7C>T

1 paper

NM_001040142.2

p.V5insFs

c.14dupT

1 paper

NM_001040142.2

p.V5insFs

c.14_15insA

1 paper

NM_001040142.2

p.L6delFs

c.17_18delTG

1 paper

NM_001040142.2

p.A2T

c.4G>A

1 paper

NM_001040142.2

p.A2S

c.4G>T

2 papers

NM_001040142.2

p.M1I

c.3G>A

2 papers

NM_001040142.2

p.M1I

c.3G>C

1 paper

NM_001040142.2

p.M1I

c.3G>T

1 paper

NM_001040142.2

p.L6Q

c.17T>A