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.P967_C968del2

c.2899_2903del6

Surrounding Variants

1 paper

NM_003632.3

p.P967fs

c.2899_2900fs

10 papers

NM_003632.3

p.P967_C968delFs

c.2901_2902delCT

3 papers

NM_003632.3

p.C968fs

c.2902_2903fs

4 papers

NM_003632.3

p.C968fs

c.2902_2903fs

1 paper

NM_003632.3

p.C968F

c.2903G>T

1 paper

NM_003632.3

p.R973L

c.2918G>T

1 paper

NM_003632.3

p.G959fs

c.2875_2876fs

1 paper

NM_003632.3

p.T958_G959insFs

c.2874_2875ins14

1 paper

NM_003632.3

p.R946H

c.2837G>A

1 paper

NM_003632.3

p.G938E

c.2813G>A

1 paper

NM_003632.3

p.G938R

c.2812G>A

1 paper

NM_003632.3

p.G938R

c.2812G>C