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.T72S

c.214A>T

Surrounding Variants

1 paper

NM_001289080.2

p.T72S

c.215C>G

1 paper

NM_001289080.2

p.S74G

c.220A>G

1 paper

NM_001289080.2

p.Y77H

c.229T>C

1 paper

NM_001289080.2

p.D80N

c.238G>A

1 paper

NM_001289080.2

p.G81R

c.241G>A

1 paper

NM_001289080.2

p.G81R

c.241G>C

1 paper

NM_001289080.2

p.S83I

c.248G>T

1 paper

NM_001289080.2

p.N87S

c.260A>G

1 paper

NM_001289080.2

p.Q93E

c.277C>G

1 paper

NM_001289080.2

p.M97I

c.291G>A

1 paper

NM_001289080.2

p.M97I

c.291G>C

1 paper

NM_001289080.2

p.M97I

c.291G>T