Varaico: Literature-Extracted Genetic Variants

Gene:NRXN3
Variant:p.G469A

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.G469A
c.1406G>C
Surrounding Variants
1 paper
NM_001330195.2
p.S470F
c.1409C>T
1 paper
NM_001330195.2
p.I471T
c.1412T>C
1 paper
NM_001330195.2
p.T477delFs
c.1429delA
1 paper
NM_001330195.2
p.P448L
c.1343C>T
1 paper
NM_001330195.2
p.R498W
c.1492C>T
1 paper
NM_001330195.2
p.K439E
c.1315A>G
1 paper
NM_001330195.2
p.R421H
c.1262G>A
1 paper
NM_001330195.2
p.R416H
c.1247G>A
2 papers
NM_001330195.2
p.I415T
c.1244T>C
1 paper
NM_004796.6
p.R176*
c.526C>T
1 paper
NM_001330195.2
p.V558M
c.1672G>A
1 paper
NM_001330195.2
p.N559K
c.1677C>A
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