Varaico: Literature-Extracted Genetic Variants

Gene:NRXN3
Variant:p.R138R

NRXN3

159 papers

RefSeq Summary

This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters res...

Pfam Domains

Laminin_G_2aa 55–184UCSCLaminin G domain
Laminin_G_2aa 117–236UCSCLaminin G domain
Laminin_G_2aa 291–417UCSCLaminin G domain
Laminin_G_2aa 479–623UCSCLaminin G domain
Syndecanaa 555–619UCSCSyndecan domain
Laminin_G_2aa 713–843UCSCLaminin G domain

Gene Aliases

HGNC Name

neurexin 3

HGNC Previous Symbol

C14orf60

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330195.2
p.R138R
c.414G>T
Surrounding Variants
1 paper
NM_001330195.2
p.P136P
c.408C>T
1 paper
NM_001330195.2
p.L149V
c.445C>G
1 paper
NM_001330195.2
p.G127delFs
c.381delC
1 paper
NM_001330195.2
p.G150A
c.449G>C
1 paper
NM_001330195.2
p.D126D
c.378T>C
1 paper
NM_001330195.2
p.L125F
c.373C>T
1 paper
NM_001330195.2
p.I156insFs
c.466_467insGG
1 paper
NM_001330195.2
p.T121M
c.362C>T
1 paper
NM_001330195.2
p.R120H
c.359G>A
1 paper
NM_001330195.2
p.S159_A160del2
c.475_479del6
1 paper
NM_001330195.2
p.S100A
c.298T>G
1 paper
NM_001330195.2
p.L99V
c.295C>G
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