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.D281H

c.841G>C

Surrounding Variants

2 papers

NM_033655.5

p.N285S

c.854A>G

1 paper

NM_033655.5

p.F286V

c.856T>G

1 paper

NM_033655.5

p.V275I

c.823G>A

1 paper

NM_033655.5

p.V288fs

c.862_863fs

1 paper

NM_033655.5

p.D268D

c.804C>T

1 paper

NM_033655.5

p.S302G

c.904A>G

1 paper

NM_033655.5

p.I256T

c.767T>C

1 paper

NM_033655.5

p.A250S

c.748G>T

1 paper

NM_033655.5

p.D206D

c.618C>T

1 paper

NM_033655.5

p.D187H

c.559G>C

1 paper

NM_033655.5

p.T373A

c.1117A>G

1 paper

NM_033655.5

p.G410V

c.1229G>T