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.L433insFs

c.1297_1298insT

Surrounding Variants

1 paper

NM_004363.6

p.C437insFs

c.1311dupC

1 paper

NM_004363.6

p.A439V

c.1316C>T

1 paper

NM_004363.6

p.A445A

c.1335A>C

2 papers

NM_004363.6

p.Q460*

c.1378C>T

1 paper

NM_004363.6

p.G473R

c.1417G>A

1 paper

NM_004363.6

p.G473R

c.1417G>C

1 paper

NM_004363.6

p.S484G

c.1450A>G

2 papers

NM_004363.6

p.S487N

c.1460G>A

1 paper

NM_004363.6

p.V491_I494del0

c.1471_1482del12

1 paper

NM_004363.6

p.V491insFs

c.1472_1473insA

1 paper

NM_004363.6

p.V411L

c.1231G>C

1 paper

NM_004363.6

p.V411F

c.1231G>T