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.G949R

c.2845G>C

Surrounding Variants

1 paper

NM_001330078.2

p.G949R

c.2845G>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

1 paper

NM_001330078.2

p.D951A

c.2852A>C

1 paper

NM_001330078.2

p.S946N

c.2837G>A

2 papers

NM_001330078.2

p.D951D

c.2853C>T

1 paper

NM_001330078.2

p.Y944*

c.2832T>G

1 paper

NM_001330078.2

p.Y944*

c.2832T>A

1 paper

NM_001330078.2

p.V954A

c.2861T>C

1 paper

NM_001330078.2

p.V954V

c.2862G>T