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.G152G

c.456C>A

Surrounding Variants

3 papers

NM_001330078.2

p.G152D

c.455G>A

1 paper

NM_001330078.2

p.G152R

c.454G>C

1 paper

NM_001330078.2

p.S142_L153ins4

c.426_458dup33

1 paper

NM_001330078.2

p.S151R

c.451A>C

2 papers

NM_001330078.2

p.F150fs

c.448_449fs

2 papers

NM_001330078.2

p.T148_V149insFs

c.443_446dup4

2 papers

NM_001330078.2

p.V149A

c.446T>C

1 paper

NM_001330078.2

p.V149M

c.445G>A

2 papers

NM_001330078.2

p.T148M

c.443C>T

2 papers

NM_001330078.2

p.G157E

c.470G>A

1 paper

NM_001330078.2

p.T148A

c.442A>G

3 papers

NM_001330078.2

p.L158fs

c.472_473fs