Varaico: Literature-Extracted Genetic Variants

CNTN2

179 papers

RefSeq Summary

This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal memb...

Pfam Domains

Ig_3aa 37–115UCSCImmunoglobulin domain

Ig_3aa 238–310UCSCImmunoglobulin domain

I-setaa 327–412UCSCImmunoglobulin I-set domain

I-setaa 419–505UCSCImmunoglobulin I-set domain

Ig_3aa 510–591UCSCImmunoglobulin domain

fn3aa 609–703UCSCFibronectin type III domain

Gene Aliases

HGNC Name

contactin 2

HGNC Previous Symbol

AXT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005076.5

p.V1024I

c.3070G>A

Surrounding Variants

2 papers

NM_005076.5

p.G965D

c.2894G>A

1 paper

NM_005076.5

p.T958fs

c.2872_2873fs

1 paper

NM_005076.5

p.K948_M949Splc

c.2845-86G>A

1 paper

NM_005076.5

p.T945N

c.2834C>A

1 paper

NM_005076.5

p.R913W

c.2737C>T

1 paper

NM_005076.5

p.P912L

c.2735C>T

1 paper

NM_005076.5

p.P911Splc

c.2732-5G>A

1 paper

NM_005076.5

p.P911Splc

c.2732-6T>A

1 paper

NM_005076.5

p.P911Splc

c.2731+1G>A

1 paper

NM_005076.5

p.P901H

c.2702C>A

1 paper

NM_005076.5

p.S900R

c.2700C>G

1 paper

NM_005076.5

p.V888M

c.2662G>A