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.S1240I

c.3719G>T

Surrounding Variants

4 papers

NM_014141.6

p.A1241A

c.3723G>A

3 papers

NM_014141.6

p.A1239Splc

c.3716-6C>G

7 papers

NM_014141.6

p.I1253T

c.3758T>C

1 paper

NM_014141.6

p.R1254K

c.3761G>A

1 paper

NM_014141.6

p.A1262V

c.3785C>T

1 paper

NM_014141.6

p.G1266Splc

c.3796+88G>A

1 paper

NM_014141.6

p.G1266Splc

c.3796+91T>C

1 paper

NM_014141.6

p.G1266Splc

c.3797-61A>T

1 paper

NM_014141.6

p.V1267I

c.3799G>A

1 paper

NM_014141.6

p.V1271L

c.3811G>C

1 paper

NM_014141.6

p.V1271L

c.3811G>T

1 paper

NM_014141.6

p.I1272F

c.3814A>T