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.D239V

c.716A>T

Surrounding Variants

1 paper

NM_001330078.2

p.D239N

c.715G>A

1 paper

NM_001330078.2

p.D238D

c.714C>T

1 paper

NM_001330078.2

p.D238G

c.713A>G

1 paper

NM_001330078.2

p.Q240Q

c.720G>A

1 paper

NM_001330078.2

p.V237M

c.709G>A

1 paper

NM_001330078.2

p.A241A

c.723C>T

1 paper

NM_001330078.2

p.V242M

c.724G>A

1 paper

NM_001330078.2

p.V242V

c.726G>T

1 paper

NM_001330078.2

p.V236M

c.706G>A

1 paper

NM_001330078.2

p.C243_D244insC

c.727_731ins3

1 paper

NM_001330078.2

p.S235S

c.705C>G

1 paper

NM_001330078.2

p.S235F

c.704C>T