Varaico: Literature-Extracted Genetic Variants

Gene:NRXN1
Variant:p.N365S

NRXN1

416 papers

RefSeq Summary

This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin com...

Pfam Domains

Laminin_G_2aa 58–192UCSCLaminin G domain
Laminin_G_2aa 121–270UCSCLaminin G domain
Laminin_G_2aa 312–446UCSCLaminin G domain
Laminin_G_2aa 508–652UCSCLaminin G domain
EGFaa 680–710UCSCEGF-like domain
Laminin_G_2aa 746–877UCSCLaminin G domain

Gene Aliases

HGNC Name

neurexin 1

HGNC Alias Symbols

KIAA0578; Hs.22998

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330078.2
p.N365S
c.1094A>G
Surrounding Variants
1 paper
NM_001330078.2
p.D364G
c.1091A>G
1 paper
NM_001330078.2
p.D364N
c.1090G>A
1 paper
NM_001330078.2
p.N363N
c.1089T>C
1 paper
NM_001330078.2
p.H368R
c.1103A>G
1 paper
NM_001330078.2
p.V370M
c.1108G>A
1 paper
NM_001330078.2
p.G360G
c.1080A>C
1 paper
NM_001135659.3
p.G393E
c.1178G>A
1 paper
NM_001330078.2
p.G360R
c.1078G>C
1 paper
NM_001330078.2
p.V370V
c.1110G>A
1 paper
NM_001330078.2
p.G360R
c.1078G>A
1 paper
NM_001330078.2
p.K371K
c.1113A>G
1 paper
NM_001330078.2
p.N359H
c.1075A>C
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