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.H1020Y

c.3058C>T

Surrounding Variants

1 paper

NM_001289080.2

p.C1021Y

c.3062G>A

1 paper

NM_001289080.2

p.P1007T

c.3019C>A

1 paper

NM_001289080.2

p.R1000G

c.2998A>G

1 paper

NM_001289080.2

p.S998C

c.2992A>T

1 paper

NM_001289080.2

p.S995T

c.2983T>A

2 papers

NM_001289080.2

p.E988K

c.2962G>A

1 paper

NM_001289080.2

p.E973*

c.2917G>T

1 paper

NM_001289080.2

p.Y970H

c.2908T>C

1 paper

NM_001289080.2

p.P965S

c.2893C>T

1 paper

NM_001289080.2

p.T958I

c.2873C>T

1 paper

NM_001289080.2

p.L953V

c.2857T>G

2 papers

NM_001289080.2

p.R943W

c.2827C>T