Varaico: Literature-Extracted Genetic Variants

Gene:NRXN1
Variant:p.V954A

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.V954A
c.2861T>C
Surrounding Variants
1 paper
NM_001330078.2
p.V954V
c.2862G>T
5 papers
NM_001330078.2
p.V955V
c.2865T>A
2 papers
NM_001330078.2
p.D951D
c.2853C>T
1 paper
NM_001330078.2
p.D951A
c.2852A>C
1 paper
NM_001330078.2
p.V958A
c.2873T>C
1 paper
NM_001330078.2
p.G949R
c.2845G>C
1 paper
NM_001330078.2
p.G949R
c.2845G>A
1 paper
NM_001330078.2
p.G960R
c.2878G>A
1 paper
NM_001330078.2
p.D948G
c.2843A>G
1 paper
NM_001330078.2
p.G947E
c.2840G>A
1 paper
NM_001330078.2
p.G947R
c.2839G>C
1 paper
NM_001330078.2
p.G947R
c.2839G>A
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