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

7 papers

NM_014141.6

p.R906H

c.2717G>A

Surrounding Variants

1 paper

NM_014141.6

p.Q904Q

c.2712G>A

2 papers

NM_014141.6

p.P902L

c.2705C>T

3 papers

NM_014141.6

p.R900W

c.2698C>T

1 paper

NM_014141.6

p.T914N

c.2741C>A

2 papers

NM_014141.6

p.L918F

c.2752C>T

1 paper

NM_014141.6

p.L918L

c.2754C>T

1 paper

NM_014141.6

p.R884Q

c.2651G>A

1 paper

NM_014141.6

p.R884W

c.2650C>T

1 paper

NM_014141.6

p.V885delFs

c.2653delG

1 paper

NM_014141.6

p.Q881K

c.2641C>A

1 paper

NM_014141.6

p.D879N

c.2635G>A

1 paper

NM_014141.6

p.S873T

c.2617T>A