MUTYH c.1129C>T ;(p.P377S)

Variant ID: 1-45797202-G-A

NM_001048174.1(MUTYH):c.1129C>T;(p.P377S)

This variant was identified in 4 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: rs121908382
PubMed Link: 36979362
Variant Present in the following documents:
  • biomolecules-13-00429.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MUTYH: 1129C>T; Gln377Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: rs121908382
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
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: rs121908382
PubMed Link: 32072083
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page