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.N364del1

c.1090_1091delAAC

Surrounding Variants

1 paper

NM_003632.3

p.G366fs

c.1096_1097fs

1 paper

NM_003632.3

p.G366A

c.1097G>C

1 paper

NM_003632.3

p.G366_G367insFs

c.1098_1099insGG

2 papers

NM_003632.3

p.G349V

c.1046G>T

1 paper

NM_003632.3

p.P378R

c.1133C>G

7 papers

NM_003632.3

p.R388P

c.1163G>C

1 paper

NM_003632.3

p.R390C

c.1168C>T

2 papers

NM_003632.3

p.G396R

c.1186G>A

2 papers

NM_003632.3

p.G396R

c.1186G>C

1 paper

NM_003632.3

p.R402S

c.1204C>A

1 paper

NM_003632.3

p.R402C

c.1204C>T

1 paper

NM_003632.3

p.V421E

c.1262T>A