Varaico: Literature-Extracted Genetic Variants

CEACAM1

81 papers

RefSeq Summary

This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the ...

Pfam Domains

V-setaa 38–141UCSCImmunoglobulin V-set domain

Ig_3aa 146–219UCSCImmunoglobulin domain

Ig_2aa 239–318UCSCImmunoglobulin domain

igaa 334–408UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

CEA cell adhesion molecule 1

HGNC Previous Symbol

BGP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001712.5

p.Y493F

c.1478A>T

Surrounding Variants

1 paper

NM_001712.5

p.Y493N

c.1477T>A

1 paper

NM_001712.5

p.T495insFs

c.1484_1485insG

1 paper

NM_001712.5

p.S508A

c.1522T>G

1 paper

NM_001712.5

p.E517*

c.1549G>T

2 papers

NM_001712.5

p.Y520F

c.1559A>T

1 paper

NM_001712.5

p.K525fs

c.1573_1574fs

1 paper

NM_001712.5

p.K525insFs

c.1574dupA

1 paper

NM_001712.5

p.K525delFs

c.1574delT

1 paper

NM_001712.5

p.Q526fs

c.1576_1577fs

1 paper

NM_001712.5

p.T477Splc

c.1430-93C>G

1 paper

NM_001712.5

p.S472*

c.1415C>G

1 paper

NM_001712.5

p.S472*

c.1415C>A