CEACAM5, CEA cell adhesion molecule 5, 1048

N. diseases: 428; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782212015
rs782212015
Entrez Id: 1048
Gene Symbol: CEACAM5
CEACAM5
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE We found mutations encoding L640I and A643T in the B3 domain of human CEACAM5 in colorectal adenocarcinomas; structural studies indicated that these mutations would alter the interaction between CEACAM5 and TGFBR1. 31585122 2020
dbSNP: rs28683503
rs28683503
Entrez Id: 1048
Gene Symbol: CEACAM5
CEACAM5
CUI: C0282687
Disease:
Hemorrhagic Fever, Ebola
0.010 GeneticVariation BEFREE Here, we report that, similar to the A82V mutation in Ebola glycoprotein, in the S glycoprotein of murine coronavirus MHV-A59, the histidine residue at position of 209 significantly affects the thermal stability of the S protein, determines whether S protein can be activated at 37°C by either pH 8.0 alone or by receptor binding, and affects viral fitness in cell culture. 29514915 2018