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.E26_L27ins2

c.78_79ins6

Surrounding Variants

1 paper

NM_001330078.2

p.L27L

c.79C>T

2 papers

NM_001330078.2

p.E26_L27ins1

c.78_79insGGC

1 paper

NM_001330078.2

p.E26_L27ins0

c.77_79dupAGC

1 paper

NM_001330078.2

p.E26_L27del1

c.77_79delGCT

1 paper

NM_001330078.2

p.L27L

c.81G>C

1 paper

NM_001330078.2

p.E26V

c.77A>T

1 paper

NM_001330078.2

p.G28C

c.82G>T

1 paper

NM_001330078.2

p.G28V

c.83G>T

5 papers

NM_001330078.2

p.G28A

c.83G>C

1 paper

NM_001330078.2

p.E26_L27del2

c.76_80del6

1 paper

NM_001330078.2

p.A25V

c.74C>T

1 paper

NM_001330078.2

p.A25T

c.73G>A