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.G30fs

c.88_89fs

Surrounding Variants

1 paper

NM_001330078.2

p.G30G

c.90G>A

1 paper

NM_001330078.2

p.L31L

c.91C>T

1 paper

NM_001330078.2

p.G30R

c.88G>C

1 paper

NM_001330078.2

p.G30R

c.88G>A

1 paper

NM_001330078.2

p.L31L

c.93G>C

1 paper

NM_001330078.2

p.S29fs

c.85_86fs

1 paper

NM_001330078.2

p.F33V

c.97T>G

1 paper

NM_001330078.2

p.F33L

c.97T>C

1 paper

NM_001330078.2

p.E32delFs

c.94_95delTC

1 paper

NM_001330078.2

p.G28V

c.83G>T

5 papers

NM_001330078.2

p.G28A

c.83G>C

1 paper

NM_001330078.2

p.E26_L27del2

c.76_80del6