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.F250Y

c.749T>A

Surrounding Variants

1 paper

NM_001330078.2

p.F250F

c.750C>T

1 paper

NM_001330078.2

p.G249G

c.747C>G

1 paper

NM_001330078.2

p.G249D

c.746G>A

1 paper

NM_001330078.2

p.G249S

c.745G>A

1 paper

NM_001330078.2

p.G252S

c.754G>A

1 paper

NM_001330078.2

p.K253*

c.757A>T

1 paper

NM_001330078.2

p.R247P

c.740G>C

2 papers

NM_001330078.2

p.R247*

c.739C>T

2 papers

NM_001330078.2

p.D254G

c.761A>G

1 paper

NM_001330078.2

p.D244_C245Fs

c.730_735delinsCTGGFs

1 paper

NM_001330078.2

p.D244E

c.732C>G

1 paper

NM_001330078.2

p.D244fs

c.730_731fs