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.P38L

c.113C>T

Surrounding Variants

1 paper

NM_001289080.2

p.P38A

c.112C>G

2 papers

NM_001289080.2

p.I36I

c.108T>A

1 paper

NM_001289080.2

p.P32L

c.95C>T

1 paper

NM_001289080.2

p.Q30E

c.88C>G

1 paper

NM_001289080.2

p.A51G

c.152C>G

3 papers

NM_001289080.2

p.N53N

c.159T>C

1 paper

NM_001289080.2

p.P56R

c.167C>G

1 paper

NM_001289080.2

p.S57L

c.170C>T

1 paper

NM_001289080.2

p.H59R

c.176A>G

1 paper

NM_001289080.2

p.H59_Y60insFs

c.177_178ins7

1 paper

NM_001289080.2

p.T72S

c.214A>T

1 paper

NM_001289080.2

p.T72S

c.215C>G