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.E567*

c.1699G>T

Surrounding Variants

1 paper

NM_005076.5

p.G570W

c.1708G>T

1 paper

NM_005076.5

p.R580C

c.1738C>T

1 paper

NM_005076.5

p.Y585*

c.1755C>A

1 paper

NM_005076.5

p.Y585*

c.1755C>G

1 paper

NM_005076.5

p.S597F

c.1790C>T

1 paper

NM_005076.5

p.F553S

c.1658T>C

1 paper

NM_005076.5

p.D552E

c.1656C>A

1 paper

NM_005076.5

p.D552E

c.1656C>G

1 paper

NM_005076.5

p.D548N

c.1642G>A

1 paper

NM_005076.5

p.L540H

c.1619T>A

1 paper

NM_005076.5

p.Q529*

c.1585C>T

1 paper

NM_005076.5

p.P607L

c.1820C>T