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.E352V

c.1055A>T

Surrounding Variants

1 paper

NM_001135659.3

p.A386A

c.1158A>T

1 paper

NM_001330078.2

p.L354P

c.1061T>C

1 paper

NM_001330078.2

p.A350P

c.1048G>C

1 paper

NM_001135659.3

p.E389fs

c.1165_1166fs

1 paper

NM_001330078.2

p.E356A

c.1067A>C

1 paper

NM_001135659.3

p.E389delFs

c.1165delC

1 paper

NM_001330078.2

p.S348A

c.1042T>G

1 paper

NM_001330078.2

p.G347A

c.1040G>C

1 paper

NM_001330078.2

p.N345K

c.1035T>G

1 paper

NM_001330078.2

p.N345K

c.1035T>A

1 paper

NM_001330078.2

p.N359H

c.1075A>C

1 paper

NM_001330078.2

p.G360R

c.1078G>C