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.K785N

c.2355G>C

Surrounding Variants

1 paper

NM_001843.4

p.K785N

c.2355G>T

2 papers

NM_001843.4

p.P794H

c.2381C>A

1 paper

NM_001843.4

p.S775N

c.2324G>A

1 paper

NM_001843.4

p.E772A

c.2315A>C

2 papers

NM_001843.4

p.D771V

c.2312A>T

1 paper

NM_001843.4

p.N761T

c.2282A>C

1 paper

NM_001843.4

p.K755E

c.2263A>G

1 paper

NM_001843.4

p.G751E

c.2252G>A

1 paper

NM_001843.4

p.I743L

c.2227A>T

1 paper

NM_001843.4

p.S711L

c.2132C>T

1 paper

NM_001843.4

p.S711P

c.2131T>C

1 paper

NM_001843.4

p.A709G

c.2126C>G