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.L79L

c.237G>A

Surrounding Variants

1 paper

NM_001330078.2

p.E80K

c.238G>A

1 paper

NM_001330078.2

p.L79_E80insGCG

c.235_239ins9

1 paper

NM_001330078.2

p.E80E

c.240G>A

1 paper

NM_001330078.2

p.D77_L79del3

c.229_236del9

1 paper

NM_001330078.2

p.F78F

c.234C>T

1 paper

NM_001330078.2

p.F78L

c.234C>G

1 paper

NM_001330078.2

p.F78insFs

c.233dupT

1 paper

NM_001330078.2

p.F78L

c.234C>A

1 paper

NM_001330078.2

p.L81P

c.242T>C

1 paper

NM_001330078.2

p.F78L

c.232T>C

1 paper

NM_001330078.2

p.L81_I82insFs

c.243_244insC

2 papers

NM_001330078.2

p.L81L

c.243G>A