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

2 papers

NM_001330078.2

p.V138insFs

c.412dupG

Surrounding Variants

2 papers

NM_001330078.2

p.V138E

c.413T>A

1 paper

NM_001330078.2

p.E139Q

c.415G>C

1 paper

NM_001330078.2

p.W137R

c.409T>A

1 paper

NM_001330078.2

p.E139E

c.417G>A

1 paper

NM_001330078.2

p.V140F

c.418G>T

1 paper

NM_001330078.2

p.V140I

c.418G>A

1 paper

NM_001330078.2

p.K136M

c.407A>T

1 paper

NM_001330078.2

p.A135T

c.403G>A

1 paper

NM_001330078.2

p.S142A

c.424T>G

1 paper

NM_001330078.2

p.S142C

c.425C>G

1 paper

NM_001330078.2

p.V133V

c.399G>A

1 paper

NM_001330078.2

p.V133A

c.398T>C