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

2 papers

NM_001330078.2

p.E848G

c.2543A>G

Surrounding Variants

1 paper

NM_001330078.2

p.T849I

c.2546C>T

1 paper

NM_001330078.2

p.N846K

c.2538C>G

1 paper

NM_001330078.2

p.N846K

c.2538C>A

1 paper

NM_001330078.2

p.H845H

c.2535T>C

1 paper

NM_001330078.2

p.I851N

c.2552T>A

8 papers

NM_001330078.2

p.H845Y

c.2533C>T

NM_001135659.3

p.H885Y

c.2653C>T

2 papers

NM_001330078.2

p.F844L

c.2532C>G

1 paper

NM_001330078.2

p.F844L

c.2532C>A

1 paper

NM_001330078.2

p.I852N

c.2555T>A

1 paper

NM_001330078.2

p.F844L

c.2530T>C

1 paper

NM_001330078.2

p.R841R

c.2521A>C

5 papers

NM_001330078.2

p.R856W

c.2566C>T