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

3 papers

NM_175607.3

p.Y630C

c.1889A>G

Surrounding Variants

1 paper

NM_175607.3

p.S625N

c.1874G>A

1 paper

NM_175607.3

p.G620R

c.1858G>A

1 paper

NM_175607.3

p.G620R

c.1858G>C

1 paper

NM_175607.3

p.T609T

c.1827A>G

1 paper

NM_175607.3

p.D606D

c.1818C>T

1 paper

NM_175607.3

p.I605T

c.1814T>C

1 paper

NM_175607.3

p.G598D

c.1793G>A

1 paper

NM_175607.3

p.L664F

c.1992G>C

1 paper

NM_175607.3

p.L664F

c.1992G>T

1 paper

NM_175607.3

p.R687H

c.2060G>A

1 paper

NM_175607.3

p.Q567H

c.1701A>C

1 paper

NM_175607.3

p.Q567H

c.1701A>T