MUTYH c.1156C>T ;(p.Q386*)

Variant ID: 1-45797175-G-A

NM_001048174.1(MUTYH):c.1156C>T;(p.Q386*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: MUTYH: 1156C>T; Gln386Ter; rs766420907
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS1.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: rs766420907
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Association of functional variants and protein-to-protein physical interactions of human MutY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome.

Non-Coding Rna Research
Abduljaleel, Zainularifeen Z; Athar, Mohammad M; Al-Allaf, Faisal A FA; Al-Dehlawi, Saied S; Vazquez, Jose R JR
Publication Date: 2019-12

Variant appearance in text: rs766420907
PubMed Link: 32072083
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page