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.P44L

c.131C>T

Surrounding Variants

1 paper

NM_001330078.2

p.P44P

c.132C>T

1 paper

NM_001330078.2

p.F43S

c.128T>C

1 paper

NM_001330078.2

p.K45R

c.134A>G

1 paper

NM_001330078.2

p.T41M

c.122C>T

1 paper

NM_001330078.2

p.N47N

c.141C>T

2 papers

NM_001330078.2

p.W40*

c.120G>A

2 papers

NM_001330078.2

p.W40*

c.119G>A

1 paper

NM_001330078.2

p.P34_W40delFs

c.100_118del19

2 papers

NM_001330078.2

p.C50C

c.150C>T

1 paper

NM_001330078.2

p.C50W

c.150C>G

1 paper

NM_001330078.2

p.E37D

c.111G>T

1 paper

NM_001330078.2

p.E37D

c.111G>C