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.K181R

c.542A>G

Surrounding Variants

1 paper

NM_001330078.2

p.K181K

c.543G>A

1 paper

NM_001330078.2

p.G182W

c.544G>T

1 paper

NM_001330078.2

p.F180_K181insFs

c.540_543dup4

1 paper

NM_001330078.2

p.W183R

c.547T>A

1 paper

NM_001330078.2

p.W183*

c.548G>A

1 paper

NM_001330078.2

p.W183C

c.549G>T

1 paper

NM_001330078.2

p.W183C

c.549G>C

1 paper

NM_001330078.2

p.W183*

c.549G>A

2 papers

NM_001330078.2

p.I184F

c.550A>T

1 paper

NM_001330078.2

p.I184V

c.550A>G

1 paper

NM_001330078.2

p.I184N

c.551T>A

1 paper

NM_001330078.2

p.I184I

c.552T>A