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

1–12 of 540 variants

27 papers

NM_014141.6

p.D1237delFs

c.3709delG

16 papers

NM_014141.6

p.I869T

c.2606T>C

11 papers

NM_014141.6

p.N407S

c.1220A>G

11 papers

NM_014141.6

p.D1129H

c.3385G>C

10 papers

NM_014141.6

p.G731S

c.2191G>A

9 papers

NM_014141.6

p.R557Splc

c.1671-1G>T

9 papers

NM_014141.6

p.Y716C

c.2147A>G

8 papers

NM_014141.6

p.R1119H

c.3356G>A

7 papers

NM_014141.6

p.N418D

c.1252A>G

7 papers

NM_014141.6

p.R906H

c.2717G>A

7 papers

NM_014141.6

p.I1253T

c.3758T>C

6 papers

NM_014141.6

p.T1278I

c.3833C>T