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

9 papers

NM_014141.6

p.Y716C

c.2147A>G

Surrounding Variants

2 papers

NM_014141.6

p.Y716S

c.2147A>C

1 paper

NM_014141.6

p.Y717*

c.2151C>A

1 paper

NM_014141.6

p.Y717*

c.2151C>G

5 papers

NM_014141.6

p.W718*

c.2153G>A

5 papers

NM_014141.6

p.W718*

c.2154G>A

1 paper

NM_014141.6

p.G719E

c.2156G>A

1 paper

NM_014141.6

p.E713K

c.2137G>A

2 papers

NM_014141.6

p.N712K

c.2136C>A

2 papers

NM_014141.6

p.N712K

c.2136C>G

1 paper

NM_014141.6

p.S721F

c.2162C>T

2 papers

NM_014141.6

p.V708A

c.2123T>C

1 paper

NM_014141.6

p.W706delFs

c.2116delT