Varaico: Literature-Extracted Genetic Variants

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.Q57ins1

c.170_171insGCA

Surrounding Variants

2 papers

NM_001330078.2

p.Q57*

c.169C>T

1 paper

NM_001330078.2

p.C49_Q57del9

c.145_170del27

1 paper

NM_001330078.2

p.L58_K59ins2

c.174_175ins6

1 paper

NM_001330078.2

p.S55T

c.164G>C

1 paper

NM_001330078.2

p.K59R

c.176A>G

1 paper

NM_001330078.2

p.M54I

c.162G>T

1 paper

NM_001330078.2

p.M54I

c.162G>C

1 paper

NM_001330078.2

p.M54I

c.162G>A

1 paper

NM_001330078.2

p.T60N

c.179C>A

1 paper

NM_001330078.2

p.M54L

c.160A>T

1 paper

NM_001330078.2

p.M54L

c.160A>C

1 paper

NM_001330078.2

p.E53E

c.159G>A