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

1–12 of 239 variants

10 papers

NM_003632.3

p.C323R

c.967T>C

10 papers

NM_003632.3

p.P967_C968delFs

c.2901_2902delCT

8 papers

NM_003632.3

p.R764C

c.2290C>T

7 papers

NM_003632.3

p.R107*

c.319C>T

7 papers

NM_003632.3

p.R388P

c.1163G>C

7 papers

NM_003632.3

p.W672*

c.2015G>A

7 papers

NM_003632.3

p.W672*

c.2016G>A

6 papers

NM_003632.3

p.L212P

c.635T>C

6 papers

NM_003632.3

p.W623*

c.1868G>A

6 papers

NM_003632.3

p.W623*

c.1869G>A

6 papers

NM_003632.3

p.Q671*

c.2011C>T

5 papers

NM_003632.3

p.R621*

c.1861C>T