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.G57Splc

c.169+1G>A

Surrounding Variants

1 paper

NM_003632.3

p.G57Splc

c.169+1G>T

1 paper

NM_003632.3

p.A53P

c.157G>C

1 paper

NM_003632.3

p.R51K

c.152G>A

4 papers

NM_003632.3

p.P50Q

c.149C>A

1 paper

NM_003632.3

p.A49A

c.147G>A

1 paper

NM_003632.3

p.S45R

c.135T>A

1 paper

NM_003632.3

p.S45S

c.135T>C

1 paper

NM_003632.3

p.Y43F

c.128A>T

1 paper

NM_003632.3

p.S37F

c.110C>T

1 paper

NM_003632.3

p.Y34C

c.101A>G

1 paper

NM_003632.3

p.L33_A35Fs

c.98_104delinsTCCFs

1 paper

NM_003632.3

p.V30M

c.88G>A