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

1 paper

NM_001289080.2

p.F287V

c.859T>G

Surrounding Variants

1 paper

NM_001289080.2

p.E290*

c.868G>T

1 paper

NM_001289080.2

p.E283Q

c.847G>C

1 paper

NM_001289080.2

p.D291Y

c.871G>T

1 paper

NM_001289080.2

p.Q279L

c.836A>T

3 papers

NM_001289080.2

p.S278A

c.832T>G

1 paper

NM_001289080.2

p.A299P

c.895G>C

2 papers

NM_001289080.2

p.N301S

c.902A>G

1 paper

NM_001289080.2

p.K272T

c.815A>C

1 paper

NM_001289080.2

p.K272*

c.814A>T

2 papers

NM_001289080.2

p.G271E

c.812G>A

3 papers

NM_001289080.2

p.R303Q

c.908G>A

1 paper

NM_001289080.2

p.P270L

c.809C>T