Varaico: Literature-Extracted Genetic Variants

CNTNAP5

132 papers

RefSeq Summary

This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, conta...

Pfam Domains

F5_F8_type_Caa 42–171UCSCF5/8 type C domain

Laminin_G_2aa 209–338UCSCLaminin G domain

Laminin_G_2aa 395–521UCSCLaminin G domain

Laminin_G_2aa 819–938UCSCLaminin G domain

Laminin_G_2aa 1044–1173UCSCLaminin G domain

Gene Aliases

HGNC Name

contactin associated protein family member 5

HGNC Alias Symbols

caspr5; FLJ31966

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001367498.1

p.S247C

c.739A>T

Surrounding Variants

2 papers

NM_001367498.1

p.L251P

c.752T>C

1 paper

NM_001367498.1

p.S253S

c.759C>T

1 paper

NM_001367498.1

p.S257C

c.770C>G

1 paper

NM_001367498.1

p.S257F

c.770C>T

1 paper

NM_001367498.1

p.A258S

c.772G>T

1 paper

NM_001367498.1

p.Q267*

c.799C>T

1 paper

NM_001367498.1

p.Q267H

c.801G>C

1 paper

NM_001367498.1

p.Q267H

c.801G>T

1 paper

NM_001367498.1

p.H270L

c.809A>T

1 paper

NM_001367498.1

p.S271A

c.811T>G

3 papers

NM_001367498.1

p.R276W

c.826C>T

1 paper

NM_001367498.1

p.T284M

c.851C>T