Varaico: Literature-Extracted Genetic Variants

Gene:NRXN3
Variant:p.E29D

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.E29D
c.87G>C
Surrounding Variants
1 paper
NM_001330195.2
p.E29D
c.87G>T
1 paper
NM_001330195.2
p.C25W
c.75C>G
1 paper
NM_001330195.2
p.L24F
c.70C>T
1 paper
NM_001330195.2
p.Q36*
c.106C>T
1 paper
NM_001330195.2
p.R39C
c.115C>T
1 paper
NM_001330195.2
p.S20T
c.58T>A
1 paper
NM_001330195.2
p.S20_C25delFs
c.58_73del16
1 paper
NM_001330195.2
p.W43*
c.128G>A
1 paper
NM_001330195.2
p.L12L
c.36G>T
1 paper
NM_001330195.2
p.R48H
c.143G>A
1 paper
NM_001330195.2
p.H6L
c.17A>T
1 paper
NM_001330195.2
p.F53_Q54delFs
c.159_160delCC
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