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

1–12 of 1591 variants

12 papers

NM_001330078.2

p.M1insFs

c.2dupT

9 papers

NM_001330078.2

p.S979*

c.2936C>G

9 papers

NM_001330078.2

p.S979*

c.2936C>A

8 papers

NM_001330078.2

p.M1insFs

c.1dupA

7 papers

NM_001330078.2

p.M1I

c.3G>T

7 papers

NM_001330078.2

p.L18Q

c.53T>A

6 papers

NM_001330078.2

p.H845Y

c.2533C>T

5 papers

NM_001330078.2

p.M1insFs

c.3dupG

5 papers

NM_001330078.2

p.G10S

c.28G>A

5 papers

NM_001330078.2

p.G28A

c.83G>C

5 papers

NM_001330078.2

p.P196H

c.587C>A

5 papers

NM_001330078.2

p.Y282H

c.844T>C