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.I972F

c.2914A>T

Surrounding Variants

1 paper

NM_175607.3

p.D967N

c.2899G>A

1 paper

NM_175607.3

p.F964I

c.2890T>A

1 paper

NM_175607.3

p.P963H

c.2888C>A

1 paper

NM_175607.3

p.S983N

c.2948G>A

1 paper

NM_175607.3

p.S957L

c.2870C>T

2 papers

NM_175607.3

p.I951F

c.2851A>T

1 paper

NM_175607.3

p.W942*

c.2826G>A

1 paper

NM_175607.3

p.W942*

c.2825G>A

2 papers

NM_175607.3

p.V938G

c.2813T>G

1 paper

NM_175607.3

p.S1005L

c.3014C>T