Varaico: Literature-Extracted Genetic Variants

CNTN1

123 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 41–118UCSCImmunoglobulin domain

Ig_3aa 241–314UCSCImmunoglobulin domain

Ig_3aa 331–395UCSCImmunoglobulin domain

I-setaa 413–501UCSCImmunoglobulin I-set domain

igaa 512–596UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

contactin 1

HGNC Alias Symbol

GP135

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001843.4

p.M154I

c.462G>C

Surrounding Variants

1 paper

NM_001843.4

p.M154I

c.462G>A

1 paper

NM_001843.4

p.M154I

c.462G>T

1 paper

NM_001843.4

p.E150V

c.449A>T

1 paper

NM_001843.4

p.V148E

c.443T>A

1 paper

NM_175038.2

p.E131D

c.393A>T

1 paper

NM_001843.4

p.P140H

c.419C>A

1 paper

NM_001843.4

p.D136N

c.406G>A

1 paper

NM_001843.4

p.T126N

c.377C>A

1 paper

NM_001843.4

p.G121R

c.361G>A

1 paper

NM_001843.4

p.G121R

c.361G>C

1 paper

NM_001843.4

p.Y120Y

c.360C>T

1 paper

NM_001843.4

p.G110R

c.328G>A