MUTYH c.13C>T ;(p.R5*)

Variant ID: 1-45800165-G-A

NM_001048174.1(MUTYH):c.13C>T;(p.R5*)

This variant was identified in 10 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: rs587780088
PubMed Link: 36979362
Variant Present in the following documents:
  • biomolecules-13-00429.pdf
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: rs587780088
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Cancer carrier screening in the general population using whole-genome sequencing.

Cancer Medicine
Chang, Ya-Sian YS; Chao, Dy-San DS; Chung, Chin-Chun CC; Chou, Yu-Pao YP; Chang, Chieh-Min CM; Lin, Chia-Li CL; Chu, Hou-Wei HW; Chen, Hon-Da HD; Liu, Ting-Yuan TY; Juan, Yu-Hsuan YH; Chang, Shun-Jen SJ; Chang, Jan-Gowth JG
Publication Date: 2022-07-21

Variant appearance in text: rs587780088
PubMed Link: 35861108
Variant Present in the following documents:
  • CAM4-12-1972-s013.xlsx, sheet 1
  • CAM4-12-1972-s008.xlsx, sheet 1
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: 13C>T; Arg5Ter; rs587780088
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS1.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 3
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: rs587780088
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.

Annals Of Translational Medicine
Lang, Guan-Tian GT; Shi, Jin-Xiu JX; Huang, Liang L; Cao, A-Yong AY; Zhang, Chen-Hui CH; Song, Chuan-Gui CG; Zhuang, Zhi-Gang ZG; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM
Publication Date: 2020-11

Variant appearance in text: rs587780088
PubMed Link: 33313162
Variant Present in the following documents:
  • Main text
  • atm-08-21-1417.pdf
View BVdb publication page



Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

Clinical And Translational Medicine
He, Cai-Yun CY; Qiu, Miao-Zhen MZ; Yang, Xin-Hua XH; Zhou, Da-Lei DL; Ma, Jiang-Jun JJ; Long, Ya-Kang YK; Ye, Zu-Lu ZL; Xu, Bo-Heng BH; Zhao, Qi Q; Jin, Ying Y; Lu, Shi-Xun SX; Wang, Zhi-Qiang ZQ; Guan, Wen-Long WL; Zhao, Bai-Wei BW; Zhou, Zhi-Wei ZW; Shao, Jian-Yong JY; Xu, Rui-Hua RH
Publication Date: 2020-01

Variant appearance in text: rs587780088
PubMed Link: 32508039
Variant Present in the following documents:
  • CTM2-10-353-s003.xlsx, sheet 3
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: rs587780088
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: MUTYH: R5X; rs587780088
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
View BVdb publication page



Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.

Oxidative Medicine And Cellular Longevity
Shinmura, Kazuya K; Goto, Masanori M; Tao, Hong H; Kato, Hisami H; Suzuki, Rie R; Nakamura, Satoki S; Matsuda, Tomonari T; Yin, Guang G; Morita, Makiko M; Kono, Suminori S; Sugimura, Haruhiko H
Publication Date: 2014

Variant appearance in text: MUTYH: Arg5*
PubMed Link: 24799981
Variant Present in the following documents:
  • Main text
View BVdb publication page