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.A99S

c.295G>T

Surrounding Variants

1 paper

NM_001040142.2

p.A99P

c.295G>C

1 paper

NM_001040142.2

p.I100_F103del4

c.298_308del12

1 paper

NM_001040142.2

p.I100T

c.299T>C

1 paper

NM_001040142.2

p.S101_R102del2

c.301_305del6

1 paper

NM_001040142.2

p.K96I

c.287A>T

1 paper

NM_001040142.2

p.K96*

c.286A>T

1 paper

NM_001040142.2

p.R102fs

c.304_305fs

1 paper

NM_001040142.2

p.R102_F103insG

c.304_308ins3

1 paper

NM_001040142.2

p.R102G

c.304C>G

39 papers

NM_001040142.2

p.R102*

c.304C>T

6 papers

NM_001040142.2

p.R102Q

c.305G>A

2 papers

NM_001040142.2

p.R102P

c.305G>C