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.N870K

c.2610C>G

Surrounding Variants

1 paper

NM_001843.4

p.N870K

c.2610C>A

2 papers

NM_001843.4

p.E880K

c.2638G>A

1 paper

NM_001843.4

p.A883D

c.2648C>A

1 paper

NM_001843.4

p.Q858E

c.2572C>G

1 paper

NM_001843.4

p.C889Y

c.2666G>A

1 paper

NM_001843.4

p.D849N

c.2545G>A

1 paper

NM_001843.4

p.I896V

c.2686A>G

1 paper

NM_001843.4

p.E897*

c.2689G>T

1 paper

NM_001843.4

p.P905S

c.2713C>T

1 paper

NM_001843.4

p.P905L

c.2714C>T

1 paper

NM_001843.4

p.I912I

c.2736C>A

1 paper

NM_001843.4

p.S914*

c.2741C>A