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.E176Q

c.526G>C

Surrounding Variants

1 paper

NM_001330078.2

p.R175_E176ins2

c.525_526ins6

1 paper

NM_001330078.2

p.E176K

c.526G>A

1 paper

NM_001330078.2

p.E176G

c.527A>G

1 paper

NM_001330078.2

p.E176D

c.528G>T

1 paper

NM_001330078.2

p.E176D

c.528G>C

2 papers

NM_001330078.2

p.R177W

c.529C>T

1 paper

NM_001330078.2

p.V174_R175ins6

c.520_524ins18

1 paper

NM_001330078.2

p.S173W

c.518C>G

1 paper

NM_001330078.2

p.L171Q

c.512T>A

4 papers

NM_001330078.2

p.L171L

c.511C>T

1 paper

NM_001330078.2

p.K181R

c.542A>G

1 paper

NM_001330078.2

p.K181K

c.543G>A