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POLK c.1288G>A ;(p.E430K)
Variant ID: 5-74886197-G-A
NM_016218.2(
POLK
):c.1288G>A;(p.E430K)
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:
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: E430K
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: E430K
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: E430K
PubMed Link:
26046662
Variant Present in the following documents:
Main text
View BVdb publication page