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.P614A

c.1840C>G

Surrounding Variants

1 paper

NM_033655.5

p.L615delFs

c.1844delA

1 paper

NM_033655.5

p.E589K

c.1765G>A

1 paper

NM_033655.5

p.T582P

c.1744A>C

1 paper

NM_033655.5

p.P553P

c.1659C>T

1 paper

NM_033655.5

p.A673V

c.2018C>T

1 paper

NM_033655.5

p.R693G

c.2077C>G

2 papers

NM_033655.5

p.R693Q

c.2078G>A

1 paper

NM_033655.5

p.D539Y

c.1615G>T

1 paper

NM_033655.5

p.A533_L534Fs

c.1599_1600delinsCFs

1 paper

NM_033655.5

p.A533fs

c.1597_1598fs

1 paper

NM_033655.5

p.A533Fs

c.1597_1599delinsTCFs

1 paper

NM_033655.5

p.A533S

c.1597G>T