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

7 papers

NM_003632.3

p.W672*

c.2016G>A

Surrounding Variants

7 papers

NM_003632.3

p.W672*

c.2015G>A

1 paper

NM_003632.3

p.Q671R

c.2012A>G

6 papers

NM_003632.3

p.Q671*

c.2011C>T

1 paper

NM_003632.3

p.C669R

c.2005T>C

1 paper

NM_003632.3

p.C677R

c.2029T>C

1 paper

NM_003632.3

p.R681W

c.2041C>T

1 paper

NM_003632.3

p.T685I

c.2054C>T

1 paper

NM_003632.3

p.V636M

c.1906G>A

6 papers

NM_003632.3

p.W623*

c.1869G>A

6 papers

NM_003632.3

p.W623*

c.1868G>A

1 paper

NM_003632.3

p.R621Q

c.1862G>A

5 papers

NM_003632.3

p.R621*

c.1861C>T