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.D1129E

c.3387T>A

Surrounding Variants

1 paper

NM_014141.6

p.D1129E

c.3387T>G

1 paper

NM_014141.6

p.D1129A

c.3386A>C

1 paper

NM_014141.6

p.H1130Y

c.3388C>T

3 papers

NM_014141.6

p.D1129N

c.3385G>A

11 papers

NM_014141.6

p.D1129H

c.3385G>C

1 paper

NM_014141.6

p.Y1136_H1137delFs

c.3407_3411del5

1 paper

NM_014141.6

p.Y1136C

c.3407A>G

2 papers

NM_014141.6

p.K1127_L1128Splc

c.3382-34G>A

1 paper

NM_014141.6

p.D1143H

c.3427G>C

1 paper

NM_014141.6

p.L1145L

c.3435C>T

1 paper

NM_014141.6

p.L1152F

c.3454C>T

1 paper

NM_014141.6

p.K1156E

c.3466A>G