Varaico: Literature-Extracted Genetic Variants

CNTNAP2

400 papers

RefSeq Summary

This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epider...

Pfam Domains

F5_F8_type_Caa 47–178UCSCF5/8 type C domain

Laminin_G_2aa 216–345UCSCLaminin G domain

Laminin_G_2aa 401–529UCSCLaminin G domain

Laminin_G_2aa 827–945UCSCLaminin G domain

Laminin_G_2aa 1055–1187UCSCLaminin G domain

Gene Aliases

HGNC Name

contactin associated protein 2

HGNC Alias Symbols

Caspr2; KIAA0868; NRXN4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014141.6

p.L1233insFs

c.3697dupC

Surrounding Variants

27 papers

NM_014141.6

p.D1237delFs

c.3709delG

1 paper

NM_014141.6

p.D1237fs

c.3709_3710fs

1 paper

NM_014141.6

p.D1237fs

c.3709_3710fs

4 papers

NM_014141.6

p.A1227T

c.3679G>A

2 papers

NM_014141.6

p.S1225S

c.3675G>A

1 paper

NM_014141.6

p.S1225L

c.3674C>T

1 paper

NM_014141.6

p.M1224T

c.3671T>C

1 paper

NM_014141.6

p.P1218L

c.3653C>T

1 paper

NM_014141.6

p.E1211Q

c.3631G>C

1 paper

NM_014141.6

p.I1205V

c.3613A>G

2 papers

NM_014141.6

p.H1202Q

c.3606C>A

2 papers

NM_014141.6

p.H1202Q

c.3606C>G