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.E207A

c.620A>C

Surrounding Variants

1 paper

NM_001330078.2

p.E207V

c.620A>T

2 papers

NM_001330078.2

p.P208L

c.623C>T

2 papers

NM_001330078.2

p.D206N

c.616G>A

1 paper

NM_001330078.2

p.P208P

c.624G>A

1 paper

NM_001330078.2

p.P209L

c.626C>T

1 paper

NM_001330078.2

p.D205N

c.613G>A

1 paper

NM_001330078.2

p.P209P

c.627C>G

1 paper

NM_001330078.2

p.P209delFs

c.626delG

3 papers

NM_001330078.2

p.L204Q

c.611T>A

1 paper

NM_001330078.2

p.K203K

c.609G>A

2 papers

NM_001330078.2

p.G212C

c.634G>T

1 paper

NM_001330078.2

p.V202V

c.606G>T