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.T737S

c.2209A>T

Surrounding Variants

3 papers

NM_014141.6

p.N735K

c.2205C>A

3 papers

NM_014141.6

p.N735K

c.2205C>G

1 paper

NM_014141.6

p.P739S

c.2215C>T

10 papers

NM_014141.6

p.G731S

c.2191G>A

2 papers

NM_014141.6

p.C730C

c.2190C>T

1 paper

NM_014141.6

p.C730_G731delFs

c.2190_2193del4

1 paper

NM_014141.6

p.C730fs

c.2188_2189fs

1 paper

NM_014141.6

p.D746N

c.2236G>A

1 paper

NM_014141.6

p.A747T

c.2239G>A

1 paper

NM_014141.6

p.D748Y

c.2242G>T

1 paper

NM_014141.6

p.D748G

c.2243A>G

1 paper

NM_014141.6

p.Q751K

c.2251C>A