Varaico: Literature-Extracted Genetic Variants

CNTNAP1

218 papers

RefSeq Summary

The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protei...

Pfam Domains

F5_F8_type_Caa 37–165UCSCF5/8 type C domain

Laminin_G_2aa 203–332UCSCLaminin G domain

Laminin_G_2aa 389–515UCSCLaminin G domain

Laminin_G_2aa 813–939UCSCLaminin G domain

Laminin_G_2aa 1088–1218UCSCLaminin G domain

Gene Aliases

HGNC Name

contactin associated protein 1

HGNC Previous Symbol

NRXN4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003632.3

p.G290R

c.868G>A

Surrounding Variants

1 paper

NM_003632.3

p.D280E

c.840C>A

1 paper

NM_003632.3

p.D280E

c.840C>G

2 papers

NM_003632.3

p.R273H

c.818G>A

1 paper

NM_003632.3

p.R273C

c.817C>T

1 paper

NM_003632.3

p.R270*

c.808C>T

1 paper

NM_003632.3

p.G256R

c.766G>A

1 paper

NM_003632.3

p.G255_V257del3

c.763_770del9

1 paper

NM_003632.3

p.S241R

c.723C>G

1 paper

NM_003632.3

p.A230T

c.688G>A

1 paper

NM_003632.3

p.G229_H231delins

c.685_693delinsCTCGACCTG

1 paper

NM_003632.3

p.E226K

c.676G>A

1 paper

NM_003632.3

p.A218T

c.652G>A