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.R235Splc

c.704-1G>T

Surrounding Variants

1 paper

NM_001843.4

p.T237A

c.709A>G

1 paper

NM_001843.4

p.P239S

c.715C>T

1 paper

NM_001843.4

p.L254L

c.760T>C

1 paper

NM_001843.4

p.G267E

c.800G>A

3 papers

NM_001843.4

p.S291insFs

c.871dupT

1 paper

NM_001843.4

p.G292G

c.876G>T

1 paper

NM_001843.4

p.I315_H321delFs

c.945_963del19

1 paper

NM_001843.4

p.D319Y

c.955G>T

1 paper

NM_001843.4

p.Q328Q

c.984A>G

1 paper

NM_001843.4

p.E332G

c.995A>G

1 paper

NM_001843.4

p.K220K

c.660G>A

1 paper

NM_001843.4

p.S217P

c.649T>C