POLK c.1256A>G ;(p.E419G)

Variant ID: 5-74882880-A-G

NM_016218.2(POLK):c.1256A>G;(p.E419G)

This variant was identified in 7 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: 1256A>G; Glu419Gly; rs111584802
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: 1256A>G; Glu419Gly
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: POLK: 1256A>G; Glu419Gly
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
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: E419G; rs111584802
PubMed Link: 31374881
Variant Present in the following documents:
  • Main text
  • molecules-24-02805.pdf
View BVdb publication page



Characterization of Nine Cancer-Associated Variants in Human DNA Polymerase κ.

Chemical Research In Toxicology
Antczak, Nicole M NM; Walker, Alice R AR; Stern, Hannah R HR; Leddin, Emmett M EM; Palad, Carl C; Coulther, Timothy A TA; Swett, Rebecca J RJ; Cisneros, G Andrés GA; Beuning, Penny J PJ
Publication Date: 2018-08-20

Variant appearance in text: POLK: E419G
PubMed Link: 30004685
Variant Present in the following documents:
  • Main text
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: 1256A>G
PubMed Link: 26046662
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biochemical characterization of eight genetic variants of human DNA polymerase κ involved in error-free bypass across bulky N(2)-guanyl DNA adducts.

Chemical Research In Toxicology
Song, Insil I; Kim, Eun-Jin EJ; Kim, In-Hyeok IH; Park, Eun-Mi EM; Lee, Kyung Eun KE; Shin, Joo-Ho JH; Guengerich, F Peter FP; Choi, Jeong-Yun JY
Publication Date: 2014-05-19

Variant appearance in text: POLK: 1256A>G; E419G; rs111584802
PubMed Link: 24725253
Variant Present in the following documents:
  • Main text
View BVdb publication page