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

6 papers

NM_005076.5

p.W168fs

c.502_503fs

Surrounding Variants

9 papers

NM_005076.5

p.W168delFs

c.503delG

6 papers

NM_005076.5

p.L169F

c.505C>T

1 paper

NM_005076.5

p.S165F

c.494C>T

1 paper

NM_005076.5

p.R182H

c.545G>A

1 paper

NM_005076.5

p.R196*

c.586C>T

2 papers

NM_005076.5

p.T210P

c.628A>C

1 paper

NM_005076.5

p.D233Splc

c.697+2T>G

1 paper

NM_005076.5

p.P162Q

c.485C>A

1 paper

NM_005076.5

p.N156N

c.468C>T

2 papers

NM_005076.5

p.P154L

c.461C>T

1 paper

NM_005076.5

p.M152L

c.454A>T

1 paper

NM_005076.5

p.G148D

c.443G>A