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.R120C

c.358C>T

Surrounding Variants

1 paper

NM_001330078.2

p.R120S

c.358C>A

1 paper

NM_001330078.2

p.I119V

c.355A>G

1 paper

NM_001330078.2

p.R118fs

c.352_353fs

3 papers

NM_001330078.2

p.R118H

c.353G>A

1 paper

NM_001330078.2

p.R121R

c.363C>T

1 paper

NM_001330078.2

p.R121R

c.363C>G

1 paper

NM_001330078.2

p.R118C

c.352C>T

1 paper

NM_001330078.2

p.V117delFs

c.351delC

1 paper

NM_001330078.2

p.V117fs

c.349_350fs

1 paper

NM_001330078.2

p.Q122R

c.365A>G

1 paper

NM_001330078.2

p.F123L

c.367T>C

1 paper

NM_001330078.2

p.Q122del1

c.364_366delCTG