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.Q378_H379Splc

c.1134+20G>C

Surrounding Variants

1 paper

NM_001330078.2

p.Q378_H379Splc

c.1134+9G>A

1 paper

NM_001330078.2

p.Q378*

c.1132C>T

1 paper

NM_001330078.2

p.L376fs

c.1126_1127fs

1 paper

NM_001330078.2

p.N375delFs

c.1125delA

1 paper

NM_001330078.2

p.N375T

c.1124A>C

1 paper

NM_001330078.2

p.V372V

c.1116C>T

1 paper

NM_001330078.2

p.K371K

c.1113A>G

1 paper

NM_001330078.2

p.V370V

c.1110G>A

1 paper

NM_001330078.2

p.V370M

c.1108G>A

1 paper

NM_001330078.2

p.H368R

c.1103A>G

1 paper

NM_001330078.2

p.N365S

c.1094A>G

1 paper

NM_001330078.2

p.D364G

c.1091A>G