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.S754delFs

c.2260delT

Surrounding Variants

1 paper

NM_175607.3

p.A755S

c.2263G>T

1 paper

NM_175607.3

p.S766S

c.2298C>T

1 paper

NM_001206956.2

p.G449C

c.1345G>T

1 paper

NM_175607.3

p.E800Splc

c.2398+70G>T

1 paper

NM_175607.3

p.S712N

c.2135G>A

2 papers

NM_175607.3

p.G710R

c.2128G>A

2 papers

NM_175607.3

p.G710R

c.2128G>C

1 paper

NM_175607.3

p.A815T

c.2443G>A

1 paper

NM_175607.3

p.I833V

c.2497A>G

1 paper

NM_175607.3

p.R687H

c.2060G>A

1 paper

NM_175607.3

p.E837_V838Splc

c.2512-8C>T

1 paper

NM_175607.3

p.A850T

c.2548G>A