Varaico: Literature-Extracted Genetic Variants

CNTNAP3

87 papers

RefSeq Summary

The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in...

Pfam Domains

F5_F8_type_Caa 43–174UCSCF5/8 type C domain

Laminin_G_2aa 212–341UCSCLaminin G domain

Laminin_G_2aa 398–522UCSCLaminin G domain

EGFaa 551–582UCSCEGF-like domain

Laminin_G_2aa 820–918UCSCLaminin G domain

Laminin_G_2aa 821–940UCSCLaminin G domain

Gene Aliases

HGNC Name

contactin associated protein family member 3

HGNC Alias Symbols

CASPR3; KIAA1714; FLJ14195; CNTNAP3A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033655.5

p.D450E

c.1350T>A

Surrounding Variants

1 paper

NM_033655.5

p.D450E

c.1350T>G

1 paper

NM_033655.5

p.L428R

c.1283T>G

1 paper

NM_033655.5

p.G410V

c.1229G>T

1 paper

NM_033655.5

p.T373A

c.1117A>G