POLK c.1324C>T ;(p.L442F)

Variant ID: 5-74886233-C-T

NM_016218.2(POLK):c.1324C>T;(p.L442F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: POLK: 1324C>T; L442F; rs1554062789
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 3
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: POLK: 1324C>T; Leu442Phe
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Mammalian DNA Polymerase Kappa Activity and Specificity.

Molecules (Basel, Switzerland)
Stern, Hannah R HR; Sefcikova, Jana J; Chaparro, Victoria E VE; Beuning, Penny J PJ
Publication Date: 2019-08-01

Variant appearance in text: POLK: L442F
PubMed Link: 31374881
Variant Present in the following documents:
  • Main text
  • molecules-24-02805.pdf
View BVdb publication page



Association Between Single Nucleotide Polymorphisms in DNA Polymerase Kappa Gene and Breast Cancer Risk in Chinese Han Population: A STROBE-Compliant Observational Study.

Medicine
Dai, Zhi-Jun ZJ; Liu, Xing-Han XH; Ma, Yun-Feng YF; Kang, Hua-Feng HF; Jin, Tian-Bo TB; Dai, Zhi-Ming ZM; Guan, Hai-Tao HT; Wang, Meng M; Liu, Kang K; Dai, Cong C; Yang, Xue-Wen XW; Wang, Xi-Jing XJ
Publication Date: 2016-01

Variant appearance in text: POLK: L442F
PubMed Link: 26765445
Variant Present in the following documents:
  • Main text
  • medi-95-e2466.pdf
View BVdb publication page



Somatic Mutations in Catalytic Core of POLK Reported in Prostate Cancer Alter Translesion DNA Synthesis.

Human Mutation
Yadav, Santosh S; Mukhopadhyay, Sudurkia S; Anbalagan, Muralidharan M; Makridakis, Nick N
Publication Date: 2015-09

Variant appearance in text: POLK: 1324C>T; L442F
PubMed Link: 26046662
Variant Present in the following documents:
  • Main text
View BVdb publication page