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

Selected Variant

2 papers

NM_004363.6

p.W178S

c.533G>C

Surrounding Variants

1 paper

NM_004363.6

p.T175N

c.524C>A

1 paper

NM_004363.6

p.N182K

c.546T>A

1 paper

NM_004363.6

p.N182K

c.546T>G

1 paper

NM_004363.6

p.Q183_R190delFs

c.547_569del23

1 paper

NM_004363.6

p.S184G

c.550A>G

1 paper

NM_004363.6

p.Q172L

c.515A>T

1 paper

NM_004363.6

p.Q172delFs

c.516delG

1 paper

NM_004363.6

p.S184N

c.551G>A

1 paper

NM_004363.6

p.Q172fs

c.514_515fs

1 paper

NM_004363.6

p.E170K

c.508G>A

1 paper

NM_004363.6

p.P186P

c.558G>A

1 paper

NM_004363.6

p.V187_R190Fs

c.560_568delinsTGGTTACCATCATCFs