POLK c.1284G>A ;(p.A428=)

Variant ID: 5-74886193-G-A

NM_016218.2(POLK):c.1284G>A;(p.A428=)

This variant was identified in 6 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: 1284G>A; Ala428=; rs770984846
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: 1284G>A; Ala428=
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: POLK: 1284G>A; Ala428=; rs770984846
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS3.xlsx, sheet 3
  • LSA-2021-01319_TableS1.xlsx, sheet 1
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: A428A
PubMed Link: 31374881
Variant Present in the following documents:
  • Main text
  • molecules-24-02805.pdf
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: POLK: 1284G>A; Ala428=
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM5_ESM.xlsx, sheet 1
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
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: 1284G>A; A428A
PubMed Link: 26046662
Variant Present in the following documents:
  • Main text
View BVdb publication page