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.N190N

c.570C>T

Surrounding Variants

2 papers

NM_001330078.2

p.N190S

c.569A>G

1 paper

NM_001330078.2

p.N190T

c.569A>C

2 papers

NM_001330078.2

p.S191C

c.572C>G

1 paper

NM_001330078.2

p.N190H

c.568A>C

2 papers

NM_001330078.2

p.V189V

c.567C>T

1 paper

NM_001330078.2

p.S191S

c.573C>T

1 paper

NM_001330078.2

p.S191delFs

c.573delG

2 papers

NM_001330078.2

p.R188K

c.563G>A

1 paper

NM_001330078.2

p.V187E

c.560T>A

1 paper

NM_001330078.2

p.V194V

c.582C>T

1 paper

NM_001330078.2

p.D186E

c.558C>G

1 paper

NM_001330078.2

p.D186E

c.558C>A