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.T1002P

c.3004A>C

Surrounding Variants

1 paper

NM_001330078.2

p.T1002A

c.3004A>G

1 paper

NM_001330078.2

p.T1002I

c.3005C>T

1 paper

NM_001330078.2

p.S998N

c.2993G>A

1 paper

NM_001330078.2

p.D1006D

c.3018C>T

2 papers

NM_001330078.2

p.D1006delFs

c.3018delG

1 paper

NM_001330078.2

p.R995R

c.2985G>A

1 paper

NM_001330078.2

p.R995K

c.2984G>A

1 paper

NM_001330078.2

p.R995R

c.2983A>C

1 paper

NM_001330078.2

p.T1010A

c.3028A>G

1 paper

NM_001330078.2

p.I993M

c.2979A>G

1 paper

NM_001330078.2

p.T1011T

c.3033G>A

1 paper

NM_001330078.2

p.Q1012P

c.3035A>C