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

2 papers

NM_175607.3

p.G240R

c.718G>C

Surrounding Variants

2 papers

NM_175607.3

p.G240R

c.718G>A

1 paper

NM_175607.3

p.K239N

c.717A>C

1 paper

NM_175607.3

p.A238A

c.714A>C

1 paper

NM_175607.3

p.P236L

c.707C>T

1 paper

NM_175607.3

p.A249S

c.745G>T

1 paper

NM_175607.3

p.G251G

c.753A>C

4 papers

NM_175607.3

p.G221D

c.662G>A

1 paper

NM_175607.3

p.M220V

c.658A>G

1 paper

NM_175607.3

p.G218Splc

c.653-1G>A

1 paper

NM_175607.3

p.N252N

c.756T>C

1 paper

NM_175607.3

p.A268V

c.803C>T

1 paper

NM_175607.3

p.G278R

c.832G>A