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.E290delFs

c.868_869delTC

Surrounding Variants

1 paper

NM_001330078.2

p.S289C

c.866C>G

1 paper

NM_001330078.2

p.G288G

c.864A>T

1 paper

NM_001330078.2

p.C293S

c.877T>A

1 paper

NM_001330078.2

p.C293S

c.878G>C

1 paper

NM_001330078.2

p.C293Y

c.878G>A

1 paper

NM_001330078.2

p.C293insFs

c.879dupC

1 paper

NM_001330078.2

p.Y294Y

c.882C>T

1 paper

NM_001330078.2

p.D295G

c.884A>G

2 papers

NM_001330078.2

p.T285M

c.854C>T

1 paper

NM_001330078.2

p.T285K

c.854C>A

1 paper

NM_001330078.2

p.A284A

c.852C>T

1 paper

NM_001330078.2

p.I283F

c.847A>T