Varaico: Literature-Extracted Genetic Variants

Gene:NRXN3
Variant:p.V558M

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.V558M
c.1672G>A
Surrounding Variants
1 paper
NM_001330195.2
p.N559K
c.1677C>A
1 paper
NM_004796.6
p.A194T
c.580G>A
1 paper
NM_001330195.2
p.P586P
c.1758G>A
1 paper
NM_001330195.2
p.P595A
c.1783C>G
1 paper
NM_001330195.2
p.L598Q
c.1793T>A
1 paper
NM_001330195.2
p.Y607Y
c.1821C>T
1 paper
NM_001330195.2
p.G609C
c.1825G>T
1 paper
NM_001330195.2
p.N631T
c.1892A>C
1 paper
NM_001330195.2
p.R641W
c.1921C>T
1 paper
NM_001330195.2
p.A644V
c.1931C>T
2 papers
NM_001330195.2
p.T678I
c.2033C>T
1 paper
NM_004796.6
p.R308S
c.924G>C
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