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.T108A

c.322A>G

Surrounding Variants

1 paper

NM_001289080.2

p.I109V

c.325A>G

1 paper

NM_001289080.2

p.G107R

c.319G>A

1 paper

NM_001289080.2

p.L105H

c.314T>A

3 papers

NM_001289080.2

p.R112W

c.334C>T

1 paper

NM_001289080.2

p.R112Q

c.335G>A

1 paper

NM_001289080.2

p.T103I

c.308C>T

1 paper

NM_001289080.2

p.Q99R

c.296A>G

1 paper

NM_001289080.2

p.L116_Q117ins1

c.348_349insCGG

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

1 paper

NM_001289080.2

p.Q93E

c.277C>G