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.R64L

c.191G>T

Surrounding Variants

1 paper

NM_001330078.2

p.R64H

c.191G>A

2 papers

NM_001330078.2

p.R64C

c.190C>T

1 paper

NM_001330078.2

p.C49_A63del15

c.145_188del45

1 paper

NM_001330078.2

p.A63A

c.189C>T

1 paper

NM_001330078.2

p.G65A

c.194G>C

2 papers

NM_001330078.2

p.A63V

c.188C>T

1 paper

NM_001330078.2

p.S62S

c.186C>T

1 paper

NM_001330078.2

p.S62R

c.186C>G

1 paper

NM_001330078.2

p.S62R

c.186C>A

1 paper

NM_001330078.2

p.G65insFs

c.195dupC

1 paper

NM_001330078.2

p.L66L

c.198C>G

1 paper

NM_001330078.2

p.S62R

c.184A>C