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.G1295C

c.3883G>T

Surrounding Variants

3 papers

NM_001040142.2

p.E1298*

c.3892G>T

1 paper

NM_001040142.2

p.I1302_K1303del2

c.3904_3908del6

1 paper

NM_001040142.2

p.S1288fs

c.3862_3863fs

1 paper

NM_001040142.2

p.S1288G

c.3862A>G

1 paper

NM_001040142.2

p.S1288delFs

c.3862delA

1 paper

NM_001040142.2

p.I1302M

c.3906C>G

1 paper

NM_001040142.2

p.S1304_L1305del2

c.3910_3914del6

1 paper

NM_001040142.2

p.S1285S

c.3855A>G

1 paper

NM_001040142.2

p.S1304S

c.3912C>T

1 paper

NM_001040142.2

p.L1305R

c.3914T>G

5 papers

NM_001040142.2

p.D1283_V1284Splc

c.3850-2A>C

1 paper

NM_001040142.2

p.L1308L

c.3922C>T