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

3 papers

NM_001135659.3

p.F905I

c.2713T>A

NM_001330078.2

p.F865I

c.2593T>A

Surrounding Variants

1 paper

NM_001330078.2

p.I866V

c.2596A>G

1 paper

NM_001330078.2

p.L869L

c.2605C>T

1 paper

NM_001330078.2

p.L869M

c.2605C>A

1 paper

NM_001330078.2

p.G867_H868delFs

c.2600_2604del5

1 paper

NM_001330078.2

p.L869L

c.2607G>A

1 paper

NM_001330078.2

p.H868_L869del2

c.2602_2606del6

1 paper

NM_001330078.2

p.S871R

c.2611A>C

1 paper

NM_001330078.2

p.S871N

c.2612G>A

1 paper

NM_001330078.2

p.S871R

c.2613C>G

1 paper

NM_001330078.2

p.S871R

c.2613C>A

1 paper

NM_001330078.2

p.Y857C

c.2570A>G

1 paper

NM_001330078.2

p.R856R

c.2568G>A