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.V579G

c.1736T>G

Surrounding Variants

1 paper

NM_001289080.2

p.T581K

c.1742C>A

2 papers

NM_001289080.2

p.S585C

c.1753A>T

2 papers

NM_001289080.2

p.V589L

c.1765G>C

2 papers

NM_001289080.2

p.V589L

c.1765G>T

1 paper

NM_001289080.2

p.D591N

c.1771G>A

1 paper

NM_001289080.2

p.I567F

c.1699A>T

1 paper

NM_001289080.2

p.A549V

c.1646C>T

1 paper

NM_001289080.2

p.G547fs

c.1639_1640fs

1 paper

NM_001289080.2

p.K545R

c.1634A>G

1 paper

NM_001289080.2

p.K546delFs

c.1638delA

1 paper

NM_001289080.2

p.D543N

c.1627G>A

1 paper

NM_001289080.2

p.V541I

c.1621G>A