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.Q42R

c.125A>G

Surrounding Variants

1 paper

NM_005076.5

p.P43R

c.128C>G

1 paper

NM_005076.5

p.F48I

c.142T>A

1 paper

NM_005076.5

p.G36A

c.107G>C

1 paper

NM_005076.5

p.G36R

c.106G>A

1 paper

NM_005076.5

p.G36R

c.106G>C

1 paper

NM_005076.5

p.T33I

c.98C>T

1 paper

NM_005076.5

p.L29M

c.85C>A

1 paper

NM_005076.5

p.W25S

c.74G>C

1 paper

NM_005076.5

p.A60T

c.178G>A

2 papers

NM_005076.5

p.R72W

c.214C>T

1 paper

NM_005076.5

p.R72L

c.215G>T

1 paper

NM_005076.5

p.M75R

c.224T>G