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

3 papers

NM_001330078.2

p.R85C

c.253C>T

Surrounding Variants

3 papers

NM_001330078.2

p.R85H

c.254G>A

1 paper

NM_001330078.2

p.T84R

c.251C>G

1 paper

NM_001330078.2

p.T84K

c.251C>A

1 paper

NM_001330078.2

p.G86S

c.256G>A

1 paper

NM_001330078.2

p.G86G

c.258C>T

1 paper

NM_001330078.2

p.G87C

c.259G>T

1 paper

NM_001330078.2

p.G87R

c.259G>C

2 papers

NM_001330078.2

p.G87G

c.261C>T

1 paper

NM_001330078.2

p.L81_I82insFs

c.243_244insC

2 papers

NM_001330078.2

p.L81L

c.243G>A

1 paper

NM_001330078.2

p.R88H

c.263G>A

1 paper

NM_001330078.2

p.L81P

c.242T>C