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

1 paper

NM_005076.5

p.G148D

c.443G>A

Surrounding Variants

5 papers

NM_005076.5

p.A145T

c.433G>A

1 paper

NM_005076.5

p.M152L

c.454A>T

2 papers

NM_005076.5

p.P154L

c.461C>T

1 paper

NM_005076.5

p.N156N

c.468C>T

1 paper

NM_005076.5

p.P162Q

c.485C>A

1 paper

NM_005076.5

p.G130C

c.388G>T

1 paper

NM_005076.5

p.L127H

c.380T>A

1 paper

NM_005076.5

p.R123S

c.369G>C

1 paper

NM_005076.5

p.R123S

c.369G>T

1 paper

NM_005076.5

p.V121I

c.361G>A

1 paper

NM_005076.5

p.V120I

c.358G>A

1 paper

NM_005076.5

p.C111G

c.331T>G