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.E328Q

c.982G>C

Surrounding Variants

1 paper

NM_005076.5

p.E328G

c.983A>G

1 paper

NM_005076.5

p.A325Splc

c.974-12G>A

1 paper

NM_005076.5

p.E337K

c.1009G>A

1 paper

NM_005076.5

p.G352A

c.1055G>C

1 paper

NM_005076.5

p.V358A

c.1073T>C

3 papers

NM_005076.5

p.R359S

c.1075C>A

1 paper

NM_005076.5

p.R359C

c.1075C>T

1 paper

NM_005076.5

p.G364_E365delins

c.1092_1093delinsAA

1 paper

NM_005076.5

p.E365K

c.1093G>A

6 papers

NM_005076.5

p.P366L

c.1097C>T

1 paper

NM_005076.5

p.V323M

c.967G>A

1 paper

NM_005076.5

p.R320S

c.958C>A