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

1–12 of 132 variants

4 papers

NM_175607.3

p.G221D

c.662G>A

3 papers

NM_175607.3

p.E331G

c.992A>G

3 papers

NM_175607.3

p.Y630C

c.1889A>G

2 papers

NM_175607.3

p.P146L

c.437C>T

2 papers

NM_175607.3

p.N178D

c.532A>G

2 papers

NM_175607.3

p.G240R

c.718G>A

2 papers

NM_175607.3

p.G240R

c.718G>C

2 papers

NM_175607.3

p.G710R

c.2128G>A

2 papers

NM_175607.3

p.G710R

c.2128G>C

2 papers

NM_175607.3

p.V938G

c.2813T>G

2 papers

NM_175607.3

p.I951F

c.2851A>T

1 paper

NM_175607.3

p.M1Fs

c.1delinsAAFs