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

7 papers

NM_001330078.2

p.L18Q

c.53T>A

Surrounding Variants

1 paper

NM_001330078.2

p.L18insFs

c.53dupT

1 paper

NM_001330078.2

p.S17L

c.50C>T

1 paper

NM_001330078.2

p.L19L

c.57G>T

2 papers

NM_001330078.2

p.L19insFs

c.56_57insT

1 paper

NM_001330078.2

p.L19L

c.57G>A

1 paper

NM_001330078.2

p.S17_L19del0

c.49_57del9

1 paper

NM_001330078.2

p.C15C

c.45C>T

1 paper

NM_001330078.2

p.S17_L20del0

c.49_60del12

2 papers

NM_001330078.2

p.G22R

c.64G>C

1 paper

NM_001330078.2

p.G22S

c.64G>A

1 paper

NM_001330078.2

p.S17_L21del0

c.49_63del15

1 paper

NM_001330078.2

p.G22D

c.65G>A