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.W61R

c.181T>C

Surrounding Variants

1 paper

NM_003632.3

p.W61R

c.181T>A

1 paper

NM_003632.3

p.S62P

c.184T>C

1 paper

NM_003632.3

p.N69D

c.205A>G

1 paper

NM_003632.3

p.P70delFs

c.210delC

1 paper

NM_003632.3

p.W71fs

c.211_212fs

1 paper

NM_003632.3

p.Q73L

c.218A>T

1 paper

NM_003632.3

p.R81W

c.241C>T

1 paper

NM_003632.3

p.V85_A86del1

c.255_257delGGC

1 paper

NM_003632.3

p.T98I

c.293C>T

1 paper

NM_003632.3

p.G57Splc

c.169+1G>A

1 paper

NM_003632.3

p.G57Splc

c.169+1G>T

1 paper

NM_003632.3

p.Y104Y

c.312C>T