Varaico: Literature-Extracted Genetic Variants

CNTN4

130 papers

RefSeq Summary

This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded pr...

Pfam Domains

I-setaa 26–118UCSCImmunoglobulin I-set domain

Ig_3aa 124–198UCSCImmunoglobulin domain

Ig_3aa 224–299UCSCImmunoglobulin domain

I-setaa 316–401UCSCImmunoglobulin I-set domain

I-setaa 406–494UCSCImmunoglobulin I-set domain

Ig_3aa 497–579UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

contactin 4

HGNC Alias Symbol

BIG-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_175607.3

p.F13L

c.37T>C

Surrounding Variants

1 paper

NM_175607.3

p.A18V

c.53C>T

1 paper

NM_175607.3

p.D19Splc

c.55+10C>A

1 paper

NM_175607.3

p.M1K

c.2T>A

1 paper

NM_175607.3

p.M1insFs

c.3dupG

1 paper

NM_175607.3

p.M1insFs

c.2dupT

1 paper

NM_175607.3

p.M1Fs

c.1delinsAAFs