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.R431M

c.1292G>T

Surrounding Variants

1 paper

NM_001843.4

p.I433L

c.1297A>C

1 paper

NM_001843.4

p.I433L

c.1297A>T

1 paper

NM_001843.4

p.A427A

c.1281T>A

1 paper

NM_001843.4

p.K423R

c.1268A>G

1 paper

NM_175038.2

p.A393T

c.1177G>A

1 paper

NM_001843.4

p.Y379H

c.1135T>C

1 paper

NM_001843.4

p.R377S

c.1131A>C

1 paper

NM_001843.4

p.R377S

c.1131A>T

1 paper

NM_001843.4

p.L376S

c.1127T>C

1 paper

NM_001843.4

p.L376fs

c.1126_1127fs

1 paper

NM_001843.4

p.E375*

c.1123G>T

1 paper

NM_001843.4

p.E332G

c.995A>G