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.I428L

c.1282A>C

Surrounding Variants

1 paper

NM_005076.5

p.A431G

c.1292C>G

1 paper

NM_005076.5

p.R432H

c.1295G>A

1 paper

NM_005076.5

p.R432P

c.1295G>C

1 paper

NM_005076.5

p.P439A

c.1315C>G

1 paper

NM_005076.5

p.P439L

c.1316C>T

1 paper

NM_005076.5

p.P439_C440Fs

c.1316_1318delinsTCFs

1 paper

NM_005076.5

p.A414Splc

c.1241-1G>C

1 paper

NM_005076.5

p.A414Splc

c.1241-1G>T

1 paper

NM_005076.5

p.P446T

c.1336C>A

2 papers

NM_005076.5

p.L451I

c.1351C>A

1 paper

NM_005076.5

p.W452C

c.1356G>C

1 paper

NM_005076.5

p.W452C

c.1356G>T