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.Y964Y

c.2892C>T

Surrounding Variants

1 paper

NM_001330078.2

p.V965L

c.2893G>T

1 paper

NM_001330078.2

p.V965L

c.2893G>C

1 paper

NM_001330078.2

p.H963fs

c.2887_2888fs

1 paper

NM_001330078.2

p.H963delFs

c.2888delT

1 paper

NM_001330078.2

p.V965V

c.2895G>C

1 paper

NM_001330078.2

p.F966fs

c.2896_2897fs

1 paper

NM_001330078.2

p.D967H

c.2899G>C

1 paper

NM_001330078.2

p.F966delFs

c.2898delA

4 papers

NM_001330078.2

p.G960Splc

c.2880-1G>A

1 paper

NM_001330078.2

p.G960Splc

c.2880-3C>G

9 papers

NM_001330078.2

p.S979*

c.2936C>G

9 papers

NM_001330078.2

p.S979*

c.2936C>A