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.C11insFs

c.31dupT

Surrounding Variants

1 paper

NM_001330078.2

p.G9insFs

c.26_27insG

1 paper

NM_001330078.2

p.G9insFs

c.26_27insGG

1 paper

NM_001330078.2

p.G9delFs

c.26_27delCC

1 paper

NM_001330078.2

p.G10C

c.28G>T

1 paper

NM_001330078.2

p.G10R

c.28G>C

5 papers

NM_001330078.2

p.G10S

c.28G>A

3 papers

NM_001330078.2

p.L13F

c.37C>T

2 papers

NM_001330078.2

p.G9R

c.25G>C

2 papers

NM_001330078.2

p.G9R

c.25G>A

2 papers

NM_001330078.2

p.R8insFs

c.23dupG

1 paper

NM_001330078.2

p.R8L

c.23G>T

4 papers

NM_001330078.2

p.R8P

c.23G>C