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.A218T

c.652G>A

Surrounding Variants

6 papers

NM_003632.3

p.L212P

c.635T>C

1 paper

NM_003632.3

p.E226K

c.676G>A

1 paper

NM_003632.3

p.G229_H231delins

c.685_693delinsCTCGACCTG

1 paper

NM_003632.3

p.A230T

c.688G>A

1 paper

NM_003632.3

p.F199L

c.597C>A

1 paper

NM_003632.3

p.F199L

c.597C>G

1 paper

NM_003632.3

p.F199L

c.595T>C

1 paper

NM_003632.3

p.S192N

c.575G>A

1 paper

NM_003632.3

p.R189*

c.565C>T

1 paper

NM_003632.3

p.I183T

c.548T>C

1 paper

NM_003632.3

p.G179D

c.536G>A

2 papers

NM_003632.3

p.F177delFs

c.530delT