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

1 paper

NM_014141.6

p.G1174R

c.3520G>C

Surrounding Variants

1 paper

NM_014141.6

p.G1174R

c.3520G>A

1 paper

NM_014141.6

p.G1174fs

c.3520_3521fs

1 paper

NM_014141.6

p.G1174delFs

c.3521delG

1 paper

NM_014141.6

p.T1176I

c.3527C>T

2 papers

NM_014141.6

p.F1184fs

c.3550_3551fs

2 papers

NM_014141.6

p.F1184_N1185delFs

c.3552_3553delCA

1 paper

NM_014141.6

p.G1161E

c.3482G>A

1 paper

NM_014141.6

p.T1160_G1161delFs

c.3480_3481delAG

1 paper

NM_014141.6

p.A1188T

c.3562G>A

1 paper

NM_014141.6

p.P1189L

c.3566C>T

1 paper

NM_014141.6

p.A1193T

c.3577G>A

1 paper

NM_014141.6

p.E1159Splc

c.3476-15C>A