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

1–12 of 134 variants

3 papers

NM_001843.4

p.S291insFs

c.871dupT

2 papers

NM_001843.4

p.D771V

c.2312A>T

2 papers

NM_001843.4

p.P794H

c.2381C>A

2 papers

NM_001843.4

p.E880K

c.2638G>A

1 paper

NM_001843.4

p.M3I

c.9G>A

1 paper

NM_001843.4

p.M3I

c.9G>C

1 paper

NM_001843.4

p.M3I

c.9G>T

1 paper

NM_001843.4

p.S8R

c.22A>C

1 paper

NM_001843.4

p.S8R

c.24T>A

1 paper

NM_001843.4

p.S8R

c.24T>G

1 paper

NM_001843.4

p.V11insFs

c.32_33insT

1 paper

NM_001843.4

p.L19S

c.56T>C