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.E398K

c.1192G>A

Surrounding Variants

1 paper

NM_004363.6

p.I395insFs

c.1183_1184insT

1 paper

NM_004363.6

p.E392K

c.1174G>A

1 paper

NM_004363.6

p.P406delFs

c.1216delC

1 paper

NM_004363.6

p.G389A

c.1166G>C

1 paper

NM_004363.6

p.V411L

c.1231G>C

1 paper

NM_004363.6

p.V411F

c.1231G>T

1 paper

NM_004363.6

p.Q370*

c.1108C>T

1 paper

NM_004363.6

p.N360K

c.1080T>A

1 paper

NM_004363.6

p.N360K

c.1080T>G

1 paper

NM_004363.6

p.N360S

c.1079A>G

1 paper

NM_004363.6

p.N360D

c.1078A>G

1 paper

NM_004363.6

p.W356*

c.1067G>A