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

1–12 of 257 variants

3 papers

NM_001289080.2

p.N53N

c.159T>C

3 papers

NM_001289080.2

p.R112W

c.334C>T

3 papers

NM_001289080.2

p.S278A

c.832T>G

3 papers

NM_001289080.2

p.R303Q

c.908G>A

3 papers

NM_001289080.2

p.I529L

c.1585A>C

3 papers

NM_001289080.2

p.W923*

c.2768G>A

3 papers

NM_001289080.2

p.W923*

c.2769G>A

2 papers

NM_001289080.2

p.I36I

c.108T>A

2 papers

NM_001289080.2

p.T108A

c.322A>G

2 papers

NM_001289080.2

p.R135*

c.403C>T

2 papers

NM_001289080.2

p.P148R

c.443C>G

2 papers

NM_001289080.2

p.F150S

c.449T>C