MUTYH c.460C>T ;(p.R154C)

Variant ID: 1-45798467-G-A

NM_001048174.1(MUTYH):c.460C>T;(p.R154C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans.

Biomolecules
Xiao, Fengxia F; Li, Jiaheng J; Lagniton, Philip Naderev Panuringan PNP; Kou, Si Hoi SH; Lei, Huijun H; Tam, Benjamin B; Wang, San Ming SM
Publication Date: 2023-02-24

Variant appearance in text: rs747993448
PubMed Link: 36979362
Variant Present in the following documents:
  • biomolecules-13-00429.pdf
View BVdb publication page



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: 460C>T; Arg154Cys; rs747993448
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS1.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 2
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: rs747993448
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page