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

2 papers

NM_033401.5

p.R298W

c.892C>T

Surrounding Variants

1 paper

NM_033401.5

p.T287I

c.860C>T

1 paper

NM_033401.5

p.K282I

c.845A>T

1 paper

NM_033401.5

p.L280_Q283del4

c.838_848del12

1 paper

NM_033401.5

p.G264delins

c.791_792delinsAT

1 paper

NM_033401.5

p.S254P

c.760T>C

1 paper

NM_033401.5

p.G248Splc

c.743-2A>C

1 paper

NM_033401.5

p.A239T

c.715G>A

1 paper

NM_033401.5

p.S311N

c.932G>A

1 paper

NM_033401.5

p.K211E

c.631A>G

1 paper

NM_033401.5

p.H326Y

c.976C>T

1 paper

NM_033401.5

p.N328H

c.982A>C

1 paper

NM_033401.5

p.L192R

c.575T>G