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

5 papers

NM_001330078.2

p.L893V

c.2677C>G

Surrounding Variants

1 paper

NM_001330078.2

p.E892insFs

c.2675dupA

1 paper

NM_001330078.2

p.C891Y

c.2672G>A

1 paper

NM_001330078.2

p.Y890Y

c.2670C>T

1 paper

NM_001330078.2

p.R896*

c.2686A>T

1 paper

NM_001330078.2

p.R896G

c.2686A>G

1 paper

NM_001330078.2

p.R896R

c.2686A>C

1 paper

NM_001330078.2

p.R896I

c.2687G>T

1 paper

NM_001330078.2

p.R896K

c.2687G>A

2 papers

NM_001330078.2

p.D889N

c.2665G>A

1 paper

NM_001330078.2

p.R900G

c.2698A>G

1 paper

NM_001330078.2

p.N885N

c.2655T>C

1 paper

NM_001330078.2

p.N901N

c.2703C>T