Varaico: Literature-Extracted Genetic Variants

Gene:NRXN3
Variant:p.S1540S

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.S1540S
c.4620C>T
Surrounding Variants
1 paper
NM_004796.6
p.G1048S
c.3142G>A
4 papers
NM_001330195.2
p.R1481Q
c.4442G>A
1 paper
NM_001330195.2
p.R1481W
c.4441C>T
1 paper
NM_001330195.2
p.V1421L
c.4261G>C
1 paper
NM_001330195.2
p.V1421L
c.4261G>T
1 paper
NM_001330195.2
p.A1381V
c.4142C>T
1 paper
NM_001330195.2
p.E1374fs
c.4120_4121fs
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