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.E582G

c.1745A>G

Surrounding Variants

1 paper

NM_014141.6

p.Y585C

c.1754A>G

1 paper

NM_014141.6

p.G587V

c.1760G>T

1 paper

NM_014141.6

p.T589P

c.1765A>C

1 paper

NM_014141.6

p.S575C

c.1723A>T

1 paper

NM_014141.6

p.W573*

c.1719G>A

1 paper

NM_014141.6

p.W573*

c.1718G>A

1 paper

NM_014141.6

p.S593Splc

c.1777+2T>C

1 paper

NM_014141.6

p.S570S

c.1710G>A

1 paper

NM_014141.6

p.S593Splc

c.1777+10A>G

1 paper

NM_014141.6

p.H565Y

c.1693C>T

1 paper

NM_014141.6

p.N561fs

c.1681_1682fs

1 paper

NM_014141.6

p.P560delFs

c.1680delC