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.G1223insFs

c.3668dupG

Surrounding Variants

1 paper

NM_033655.5

p.G1223fs

c.3667_3668fs

1 paper

NM_033655.5

p.A1224insFs

c.3670dupG

1 paper

NM_033655.5

p.R1219*

c.3655C>T

4 papers

NM_033655.5

p.R1214W

c.3640C>T

1 paper

NM_033655.5

p.S1209S

c.3627C>T

1 paper

NM_033655.5

p.G1206W

c.3616G>T

1 paper

NM_033655.5

p.A1204T

c.3610G>A

1 paper

NM_033655.5

p.V1197L

c.3589G>T

1 paper

NM_033655.5

p.V1197L

c.3589G>C

3 papers

NM_033655.5

p.G1195R

c.3583G>C

1 paper

NM_033655.5

p.G1174del1

c.3520_3522delGCC

6 papers

NM_033655.5

p.F1173L

c.3519C>G