Varaico: Literature-Extracted Genetic Variants

CNTNAP4

78 papers

RefSeq Summary

This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal gr...

Pfam Domains

F5_F8_type_Caa 41–174UCSCF5/8 type C domain

Laminin_G_2aa 212–323UCSCLaminin G domain

Laminin_G_2aa 212–341UCSCLaminin G domain

Laminin_G_2aa 350–476UCSCLaminin G domain

Laminin_G_2aa 773–892UCSCLaminin G domain

Laminin_G_2aa 998–1128UCSCLaminin G domain

Gene Aliases

HGNC Name

contactin associated protein family member 4

HGNC Alias Symbols

CASPR4; KIAA1763

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033401.5

p.T96A

c.286A>G

Surrounding Variants

1 paper

NM_033401.5

p.V94_A95delFs

c.280_283del4

1 paper

NM_033401.5

p.D84Y

c.250G>T

1 paper

NM_033401.5

p.F113S

c.338T>C

1 paper

NM_033401.5

p.N119_W120delFs

c.355_358del4

1 paper

NM_033401.5

p.N119fs

c.355_356fs

1 paper

NM_033401.5

p.G69V

c.206G>T