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.L58L

c.174G>C

Surrounding Variants

1 paper

NM_004363.6

p.P59T

c.175C>A

1 paper

NM_004363.6

p.H61N

c.181C>A

1 paper

NM_004363.6

p.Y65S

c.194A>C

1 paper

NM_004363.6

p.K49M

c.146A>T

1 paper

NM_004363.6

p.Y68H

c.202T>C

1 paper

NM_004363.6

p.G48R

c.142G>A

1 paper

NM_004363.6

p.G48R

c.142G>C

1 paper

NM_004363.6

p.N76D

c.226A>G

1 paper

NM_004363.6

p.T41R

c.122C>G

1 paper

NM_004363.6

p.T41M

c.122C>T

1 paper

NM_004363.6

p.N76N

c.228C>T

1 paper

NM_004363.6

p.S40F

c.119C>T