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.V361_G362Splc

c.1084-2A>G

Surrounding Variants

1 paper

NM_014141.6

p.G362R

c.1084G>A

1 paper

NM_014141.6

p.G362R

c.1084G>C

2 papers

NM_014141.6

p.G362E

c.1085G>A

1 paper

NM_014141.6

p.V369L

c.1105G>C

1 paper

NM_014141.6

p.V369L

c.1105G>T

1 paper

NM_014141.6

p.P371L

c.1112C>T

1 paper

NM_014141.6

p.T373S

c.1117A>T

1 paper

NM_014141.6

p.T373M

c.1118C>T

1 paper

NM_014141.6

p.F377V

c.1129T>G

1 paper

NM_014141.6

p.N379K

c.1137C>A

1 paper

NM_014141.6

p.N379K

c.1137C>G

2 papers

NM_014141.6

p.S382N

c.1145G>A