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.L376W

c.1127T>G

Surrounding Variants

2 papers

NM_005076.5

p.L380P

c.1139T>C

1 paper

NM_005076.5

p.R372W

c.1114C>T

1 paper

NM_005076.5

p.S390*

c.1169C>A

1 paper

NM_005076.5

p.S390L

c.1169C>T

1 paper

NM_005076.5

p.Q413*

c.1237C>T

6 papers

NM_005076.5

p.P366L

c.1097C>T

1 paper

NM_005076.5

p.E365K

c.1093G>A

1 paper

NM_005076.5

p.G364_E365delins

c.1092_1093delinsAA

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.V358A

c.1073T>C

1 paper

NM_005076.5

p.G352A

c.1055G>C