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.G833Splc

c.2498-9C>A

Surrounding Variants

1 paper

NM_001330078.2

p.G833Splc

c.2498-8T>C

1 paper

NM_001330078.2

p.G833R

c.2497G>C

1 paper

NM_001330078.2

p.G833Splc

c.2498-17A>G

1 paper

NM_001330078.2

p.G833V

c.2498G>T

1 paper

NM_001330078.2

p.Q834Q

c.2502A>G

1 paper

NM_001330078.2

p.G837R

c.2509G>C

1 paper

NM_001330078.2

p.G837V

c.2510G>T

1 paper

NM_001330078.2

p.G833Splc

c.2498-37G>T

1 paper

NM_001330078.2

p.T840I

c.2519C>T

1 paper

NM_001330078.2

p.R841R

c.2521A>C

1 paper

NM_001330078.2

p.F844L

c.2530T>C

2 papers

NM_001330078.2

p.F844L

c.2532C>G