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

2 papers

NM_003632.3

p.W785*

c.2354G>A

Surrounding Variants

2 papers

NM_003632.3

p.W785*

c.2355G>A

1 paper

NM_003632.3

p.R797C

c.2389C>T

1 paper

NM_003632.3

p.S816C

c.2447C>G

1 paper

NM_003632.3

p.S819L

c.2456C>T

1 paper

NM_003632.3

p.L823P

c.2468T>C

1 paper

NM_003632.3

p.N825D

c.2473A>G

1 paper

NM_003632.3

p.W833R

c.2497T>A

1 paper

NM_003632.3

p.W833R

c.2497T>C

1 paper

NM_003632.3

p.R834C

c.2500C>T

1 paper

NM_003632.3

p.R834H

c.2501G>A

1 paper

NM_003632.3

p.R835G

c.2503C>G

1 paper

NM_003632.3

p.R839W

c.2515C>T