Varaico: Literature-Extracted Genetic Variants

CNTN6

195 papers

RefSeq Summary

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule...

Pfam Domains

Ig_3aa 25–104UCSCImmunoglobulin domain

Ig_3aa 124–200UCSCImmunoglobulin domain

Ig_3aa 226–301UCSCImmunoglobulin domain

I-setaa 318–403UCSCImmunoglobulin I-set domain

I-setaa 408–496UCSCImmunoglobulin I-set domain

Ig_3aa 500–580UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

contactin 6

HGNC Alias Symbol

NB-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001289080.2

p.F150S

c.449T>C

Surrounding Variants

2 papers

NM_001289080.2

p.P148R

c.443C>G

1 paper

NM_001289080.2

p.P147L

c.440C>T

1 paper

NM_001289080.2

p.V141V

c.423G>T

1 paper

NM_001289080.2

p.Q138*

c.412C>T

2 papers

NM_001289080.2

p.R135*

c.403C>T

1 paper

NM_001289080.2

p.T131_V132ins2

c.393_394ins6

1 paper

NM_001289080.2

p.T131K

c.392C>A

1 paper

NM_001289080.2

p.S130G

c.388A>G

1 paper

NM_001289080.2

p.K127I

c.380A>T

1 paper

NM_001289080.2

p.Y120delFs

c.360delT