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.A219E

c.656C>A

Surrounding Variants

1 paper

NM_001330078.2

p.A219insFs

c.655_656insT

1 paper

NM_001330078.2

p.A219A

c.657G>A

1 paper

NM_001330078.2

p.G220S

c.658G>A

1 paper

NM_001330078.2

p.G220A

c.659G>C

1 paper

NM_001330078.2

p.E218G

c.653A>G

2 papers

NM_001330078.2

p.G220G

c.660C>T

1 paper

NM_001330078.2

p.C217delFs

c.650delC

1 paper

NM_001330078.2

p.A219_E222del0

c.656_664del9

1 paper

NM_001330078.2

p.P216S

c.646C>T

3 papers

NM_001330078.2

p.S215N

c.644G>A

1 paper

NM_001330078.2

p.G214E

c.641G>A

1 paper

NM_001330078.2

p.E224G

c.671A>G