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.L19S

c.56T>C

Surrounding Variants

1 paper

NM_001843.4

p.V11insFs

c.32_33insT

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.S8R

c.22A>C

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.E21fs

c.61_62fs

1 paper

NM_001843.4

p.G31R

c.91G>A

1 paper

NM_001843.4

p.G31R

c.91G>C