Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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