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.A4V

c.11C>T

Surrounding Variants

4 papers

NM_001330078.2

p.A4insFs

c.11dupC

1 paper

NM_001330078.2

p.A4P

c.10G>C

1 paper

NM_001330078.2

p.A4A

c.12G>A

1 paper

NM_001330078.2

p.A4insFs

c.12dupG

1 paper

NM_001330078.2

p.L5P

c.14T>C

1 paper

NM_001330078.2

p.T3M

c.8C>T

1 paper

NM_001330078.2

p.T3K

c.8C>A

5 papers

NM_001330078.2

p.M1insFs

c.3dupG

1 paper

NM_001330078.2

p.G2R

c.4G>C

7 papers

NM_001330078.2

p.M1I

c.3G>T

12 papers

NM_001330078.2

p.M1insFs

c.2dupT

2 papers

NM_001330078.2

p.M1I

c.3G>C