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.K313K

c.939A>G

Surrounding Variants

1 paper

NM_001330078.2

p.T314insFs

c.941dupC

2 papers

NM_001330078.2

p.L310L

c.930G>A

1 paper

NM_001330078.2

p.L320L

c.958C>T

1 paper

NM_001330078.2

p.E307Q

c.919G>C

1 paper

NM_001330078.2

p.E307K

c.919G>A

2 papers

NM_001330078.2

p.S304S

c.912C>T

1 paper

NM_001330078.2

p.S304N

c.911G>A

1 paper

NM_001330078.2

p.T324insFs

c.971_972ins4

1 paper

NM_001330078.2

p.T324insFs

c.970dupA

1 paper

NM_001330078.2

p.Q302H

c.906A>C

1 paper

NM_001330078.2

p.G325G

c.975G>A

2 papers

NM_001330078.2

p.P300P

c.900C>T

NM_001135659.3

p.P333P

c.999C>T