Varaico: Literature-Extracted Genetic Variants

Gene:NRXN1
Variant:p.L929I

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.L929I
c.2785C>A
Surrounding Variants
1 paper
NM_001330078.2
p.L929F
c.2785C>T
1 paper
NM_001330078.2
p.L929L
c.2787T>A
1 paper
NM_001330078.2
p.H928Y
c.2782C>T
1 paper
NM_001330078.2
p.M927T
c.2780T>C
1 paper
NM_001330078.2
p.F933L
c.2797T>C
1 paper
NM_001330078.2
p.T925P
c.2773A>C
1 paper
NM_001330078.2
p.F933L
c.2799C>G
1 paper
NM_001330078.2
p.F933L
c.2799C>A
1 paper
NM_001330078.2
p.A923T
c.2767G>A
1 paper
NM_001330078.2
p.Q922Q
c.2766A>G
1 paper
NM_001330078.2
p.L921F
c.2763G>T
1 paper
NM_001330078.2
p.L921F
c.2763G>C
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