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.L103insFs

c.307dupC

Surrounding Variants

1 paper

NM_001330078.2

p.L103L

c.309C>T

1 paper

NM_001330078.2

p.L103F

c.307C>T

1 paper

NM_001330078.2

p.T102T

c.306G>A

1 paper

NM_001330078.2

p.L104L

c.310C>T

1 paper

NM_001330078.2

p.L104L

c.312G>T

1 paper

NM_001330078.2

p.T102S

c.304A>T

1 paper

NM_001330078.2

p.T102A

c.304A>G

1 paper

NM_001330078.2

p.T102_L103insG

c.304_308ins3

1 paper

NM_001330078.2

p.A101A

c.303G>T

1 paper

NM_001330078.2

p.A105T

c.313G>A

1 paper

NM_001330078.2

p.A101A

c.303G>A

1 paper

NM_001330078.2

p.A105V

c.314C>T