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

1–12 of 89 variants

8 papers

NM_033655.5

p.G714V

c.2141G>T

6 papers

NM_033655.5

p.F1173L

c.3517T>C

6 papers

NM_033655.5

p.F1173L

c.3519C>G

6 papers

NM_033655.5

p.F1173L

c.3519C>A

5 papers

NM_033655.5

p.T1123A

c.3367A>G

4 papers

NM_033655.5

p.R1214W

c.3640C>T

3 papers

NM_033655.5

p.H1032Y

c.3094C>T

3 papers

NM_033655.5

p.G1195R

c.3583G>C

2 papers

NM_033655.5

p.P29Splc

c.85+1G>A

2 papers

NM_033655.5

p.N285S

c.854A>G

2 papers

NM_033655.5

p.R693Q

c.2078G>A

2 papers

NM_033655.5

p.A769T

c.2305G>A