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

1 paper

NM_001712.5

p.S148P

c.442T>C

Surrounding Variants

1 paper

NM_001712.5

p.N155delFs

c.463delT

1 paper

NM_001712.5

p.W179*

c.537G>A

1 paper

NM_001712.5

p.Q183E

c.547C>G

2 papers

NM_001712.5

p.L185insFs

c.553_554ins4

1 paper

NM_001712.5

p.L185fs

c.553_554fs

1 paper

NM_001712.5

p.P228insFs

c.682_683ins4

1 paper

NM_001712.5

p.T230insFs

c.688_689ins4

1 paper

NM_001712.5

p.V233G

c.698T>G

1 paper

NM_001712.5

p.R250H

c.749G>A

1 paper

NM_001712.5

p.W271*

c.812G>A

1 paper

NM_001712.5

p.W271*

c.813G>A

1 paper

NM_001712.5

p.P287S

c.859C>T