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

11 papers

NM_014141.6

p.N407S

c.1220A>G

Surrounding Variants

1 paper

NM_014141.6

p.N405S

c.1214A>G

1 paper

NM_014141.6

p.Q400L

c.1199A>T

1 paper

NM_014141.6

p.H414Q

c.1242C>G

1 paper

NM_014141.6

p.A416V

c.1247C>T

2 papers

NM_014141.6

p.D417Y

c.1249G>T

1 paper

NM_014141.6

p.V397A

c.1190T>C

7 papers

NM_014141.6

p.N418D

c.1252A>G

1 paper

NM_014141.6

p.S396S

c.1188A>T

1 paper

NM_014141.6

p.L419F

c.1257G>C

1 paper

NM_014141.6

p.L419F

c.1257G>T

2 papers

NM_014141.6

p.Q392insFs

c.1175_1176dupAG

1 paper

NM_014141.6

p.N391H

c.1171A>C