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

1–12 of 84 variants

2 papers

NM_033401.5

p.L14fs

c.40_41fs

2 papers

NM_033401.5

p.L14_L15insFs

c.42_43insT

2 papers

NM_033401.5

p.A42_S43insT

c.124_128ins3

2 papers

NM_033401.5

p.R298W

c.892C>T

1 paper

NM_033401.5

p.M1insFs

c.2dupT

1 paper

NM_033401.5

p.L12V

c.34C>G

1 paper

NM_033401.5

p.S28T

c.82T>A

1 paper

NM_033401.5

p.S28A

c.82T>G

1 paper

NM_033401.5

p.S28F

c.83C>T

1 paper

NM_033401.5

p.F58S

c.173T>C

1 paper

NM_033401.5

p.G69V

c.206G>T

1 paper

NM_033401.5

p.D84Y

c.250G>T