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.R630C

c.1888C>T

Surrounding Variants

1 paper

NM_005076.5

p.S636delFs

c.1907delG

1 paper

NM_005076.5

p.S636fs

c.1906_1907fs

1 paper

NM_005076.5

p.A639T

c.1915G>A

1 paper

NM_005076.5

p.A639D

c.1916C>A

1 paper

NM_005076.5

p.P607L

c.1820C>T

2 papers

NM_005076.5

p.R657W

c.1969C>T

1 paper

NM_005076.5

p.N659Splc

c.1976-13T>A

1 paper

NM_005076.5

p.A661T

c.1981G>A

1 paper

NM_005076.5

p.S597F

c.1790C>T

1 paper

NM_005076.5

p.T676I

c.2027C>T

1 paper

NM_005076.5

p.R684W

c.2050C>T

1 paper

NM_005076.5

p.Y585*

c.1755C>A