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.C228C

c.684C>T

Surrounding Variants

1 paper

NM_001330078.2

p.C228delins

c.682_683delinsGA

1 paper

NM_001330078.2

p.V227V

c.681G>A

1 paper

NM_001330078.2

p.N230Y

c.688A>T

1 paper

NM_001330078.2

p.N230insFs

c.689_690insC

1 paper

NM_001330078.2

p.G231G

c.693A>G

1 paper

NM_001330078.2

p.G225S

c.673G>A

1 paper

NM_001330078.2

p.V233M

c.697G>A

1 paper

NM_001330078.2

p.E224G

c.671A>G

1 paper

NM_001330078.2

p.S235P

c.703T>C

1 paper

NM_001330078.2

p.A219_E222del0

c.656_664del9

1 paper

NM_001330078.2

p.S235F

c.704C>T

1 paper

NM_001330078.2

p.S235Y

c.704C>A