Varaico: Literature-Extracted Genetic Variants

CNTNAP2

400 papers

RefSeq Summary

This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epider...

Pfam Domains

F5_F8_type_Caa 47–178UCSCF5/8 type C domain

Laminin_G_2aa 216–345UCSCLaminin G domain

Laminin_G_2aa 401–529UCSCLaminin G domain

Laminin_G_2aa 827–945UCSCLaminin G domain

Laminin_G_2aa 1055–1187UCSCLaminin G domain

Gene Aliases

HGNC Name

contactin associated protein 2

HGNC Alias Symbols

Caspr2; KIAA0868; NRXN4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

16 papers

NM_014141.6

p.I869T

c.2606T>C

Surrounding Variants

2 papers

NM_014141.6

p.V870I

c.2608G>A

1 paper

NM_014141.6

p.V871L

c.2611G>C

1 paper

NM_014141.6

p.V871L

c.2611G>T

1 paper

NM_014141.6

p.P866T

c.2596C>A

1 paper

NM_014141.6

p.S873T

c.2617T>A

1 paper

NM_014141.6

p.D861Y

c.2581G>T

2 papers

NM_014141.6

p.F860L

c.2580T>A

2 papers

NM_014141.6

p.F860L

c.2580T>G

2 papers

NM_014141.6

p.F860L

c.2578T>C

1 paper

NM_014141.6

p.D879N

c.2635G>A

2 papers

NM_014141.6

p.S859L

c.2576C>T

1 paper

NM_014141.6

p.Q881K

c.2641C>A