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

8 papers

NM_033655.5

p.G714V

c.2141G>T

Surrounding Variants

1 paper

NM_033655.5

p.S711Y

c.2132C>A

1 paper

NM_033655.5

p.T710T

c.2130T>C

1 paper

NM_033655.5

p.Q720E

c.2158C>G

1 paper

NM_033655.5

p.R743R

c.2229G>A

2 papers

NM_033655.5

p.A769T

c.2305G>A

1 paper

NM_033655.5

p.A777D

c.2330C>A

1 paper

NM_033655.5

p.R786C

c.2356C>T

1 paper

NM_033655.5

p.Q789*

c.2365C>T