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

1–12 of 70 variants

5 papers

NM_001712.5

p.T457A

c.1369A>G

3 papers

NM_001712.5

p.N95Y

c.283A>T

2 papers

NM_001712.5

p.Y68C

c.203A>G

2 papers

NM_001712.5

p.T100I

c.299C>T

2 papers

NM_001712.5

p.L185insFs

c.553_554ins4

2 papers

NM_001712.5

p.S407R

c.1219A>C

2 papers

NM_001712.5

p.S407R

c.1221C>G

2 papers

NM_001712.5

p.S407R

c.1221C>A

2 papers

NM_001712.5

p.D465N

c.1393G>A

2 papers

NM_001712.5

p.Y493F

c.1478A>T

2 papers

NM_001712.5

p.Y520F

c.1559A>T

1 paper

NM_001712.5

p.L8fs

c.22_23fs