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.Y1293H

c.3877T>C

Surrounding Variants

1 paper

NM_014141.6

p.Y1293F

c.3878A>T

1 paper

NM_014141.6

p.T1292A

c.3874A>G

1 paper

NM_014141.6

p.R1288S

c.3862C>A

4 papers

NM_014141.6

p.R1288C

c.3862C>T

1 paper

NM_014141.6

p.M1286I

c.3858G>A

1 paper

NM_014141.6

p.M1286I

c.3858G>C

1 paper

NM_014141.6

p.M1286I

c.3858G>T

1 paper

NM_014141.6

p.M1286T

c.3857T>C

1 paper

NM_014141.6

p.S1303L

c.3908C>T

1 paper

NM_014141.6

p.L1279Q

c.3836T>A

6 papers

NM_014141.6

p.T1278I

c.3833C>T

1 paper

NM_014141.6

p.C1277S

c.3830G>C