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.R1105K

c.3314G>A

Surrounding Variants

5 papers

NM_014141.6

p.V1102A

c.3305T>C

1 paper

NM_014141.6

p.V1102I

c.3304G>A

1 paper

NM_014141.6

p.G1110R

c.3328G>A

1 paper

NM_014141.6

p.G1110R

c.3328G>C

1 paper

NM_014141.6

p.Q1111*

c.3331C>T

2 papers

NM_014141.6

p.S1114G

c.3340A>G

1 paper

NM_014141.6

p.V1115A

c.3344T>C

8 papers

NM_014141.6

p.R1119H

c.3356G>A

1 paper

NM_014141.6

p.E1121K

c.3361G>A

2 papers

NM_014141.6

p.R1088*

c.3262C>T

1 paper

NM_014141.6

p.I1124N

c.3371T>A

2 papers

NM_014141.6

p.G1083Splc

c.3248-4A>G