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.P1052L

c.3155C>T

Surrounding Variants

2 papers

NM_033655.5

p.T1051S

c.3152C>G

2 papers

NM_033655.5

p.T1051S

c.3151A>T

1 paper

NM_033655.5

p.R1050*

c.3148C>T

1 paper

NM_033655.5

p.L1044V

c.3130C>G

1 paper

NM_033655.5

p.M1041I

c.3123G>T

1 paper

NM_033655.5

p.M1041I

c.3123G>C

1 paper

NM_033655.5

p.M1041I

c.3123G>A

3 papers

NM_033655.5

p.H1032Y

c.3094C>T

1 paper

NM_033655.5

p.V1028I

c.3082G>A

1 paper

NM_033655.5

p.E999G

c.2996A>G

1 paper

NM_033655.5

p.E999Splc

c.2996-39C>A

1 paper

NM_033655.5

p.M1116I

c.3348G>T