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.N980S

c.2939A>G

Surrounding Variants

1 paper

NM_001330078.2

p.N980D

c.2938A>G

9 papers

NM_001330078.2

p.S979*

c.2936C>G

9 papers

NM_001330078.2

p.S979*

c.2936C>A

1 paper

NM_001330078.2

p.L983I

c.2947C>A

1 paper

NM_001330078.2

p.N984D

c.2950A>G

1 paper

NM_001330078.2

p.N984S

c.2951A>G

1 paper

NM_001330078.2

p.Q987Q

c.2961G>A

1 paper

NM_001330078.2

p.V991E

c.2972T>A

1 paper

NM_001330078.2

p.D967H

c.2899G>C

1 paper

NM_001330078.2

p.F966delFs

c.2898delA

1 paper

NM_001330078.2

p.I993M

c.2979A>G

1 paper

NM_001330078.2

p.F966fs

c.2896_2897fs