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

1–12 of 169 variants

9 papers

NM_005076.5

p.W168delFs

c.503delG

7 papers

NM_005076.5

p.E309K

c.925G>A

6 papers

NM_005076.5

p.W168fs

c.502_503fs

6 papers

NM_005076.5

p.L169F

c.505C>T

6 papers

NM_005076.5

p.P366L

c.1097C>T

5 papers

NM_005076.5

p.A145T

c.433G>A

3 papers

NM_005076.5

p.R314*

c.940C>T

3 papers

NM_005076.5

p.R359S

c.1075C>A

3 papers

NM_005076.5

p.E567*

c.1699G>T

3 papers

NM_005076.5

p.V1024I

c.3070G>A

2 papers

NM_005076.5

p.R72W

c.214C>T

2 papers

NM_005076.5

p.P154L

c.461C>T