Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP4
Variant:p.F58S

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.F58S
c.173T>C
Surrounding Variants
2 papers
NM_033401.5
p.A42_S43insT
c.124_128ins3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."