Varaico: Literature-Extracted Genetic Variants

CEACAM5

327 papers

RefSeq Summary

This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gast...

Pfam Domains

V-setaa 38–141UCSCImmunoglobulin V-set domain

Ig_3aa 146–219UCSCImmunoglobulin domain

Ig_2aa 239–318UCSCImmunoglobulin domain

Ig_3aa 324–397UCSCImmunoglobulin domain

Ig_2aa 417–496UCSCImmunoglobulin domain

Ig_3aa 502–575UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

CEA cell adhesion molecule 5

HGNC Previous Symbol

CEA

Papers

RefSeq ID

Protein change

DNA change

1–12 of 153 variants

2 papers

NM_004363.6

p.C12Y

c.35G>A

2 papers

NM_004363.6

p.C12F

c.35G>T

2 papers

NM_004363.6

p.W28*

c.83G>A

2 papers

NM_004363.6

p.L58L

c.174G>C

2 papers

NM_004363.6

p.Q137P

c.410A>C

2 papers

NM_004363.6

p.F138L

c.412T>C

2 papers

NM_004363.6

p.F138L

c.414C>A

2 papers

NM_004363.6

p.F138L

c.414C>G

2 papers

NM_004363.6

p.R139W

c.415C>T

2 papers

NM_004363.6

p.W178S

c.533G>C

2 papers

NM_004363.6

p.E398K

c.1192G>A

2 papers

NM_004363.6

p.L433insFs

c.1297_1298insT