PUM3 c.866G>A ;(p.R289Q)

Variant ID: 9-2828765-C-T

NM_014878.4(PUM3):c.866G>A;(p.R289Q)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Minor histocompatibility antigens HA-8 and PANE1 in the TUNISIAN population.

Molecular Genetics & Genomic Medicine
Said, Rahma R; Sellami, Mohamed Hichem MH; Kaabi, Houda H; Hmida, Slama S
Publication Date: 2022-11

Variant appearance in text: rs2173904
PubMed Link: 36036171
Variant Present in the following documents:
  • Main text
  • MGG3-10-e2050.pdf
View BVdb publication page



Rapid Multiplex Genotyping of 20 HLA-A*02:01 Restricted Minor Histocompatibility Antigens.

Frontiers In Immunology
Romaniuk, Dmitrii S DS; Postovskaya, Anna M AM; Khmelevskaya, Alexandra A AA; Malko, Dmitry B DB; Efimov, Grigory A GA
Publication Date: 2019

Variant appearance in text: rs2173904
PubMed Link: 31275297
Variant Present in the following documents:
  • Main text
  • fimmu-10-01226.pdf
View BVdb publication page



Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Publication Date: 2018-03-02

Variant appearance in text: rs2173904
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Single step multiple genotyping by MALDI-TOF mass spectrometry, for evaluation of minor histocompatibility antigens in patients submitted to allogeneic stem cell transplantation from HLA-matched related and unrelated donor.

Hematology Reports
Cattina, Federica F; Bernardi, Simona S; Mantovani, Vilma V; Toffoletti, Eleonora E; Santoro, Alessandra A; Pastore, Domenico D; Martino, Bruno B; Console, Giuseppe G; Martinelli, Giovanni G; Malagola, Michele M
Publication Date: 2017-09-26

Variant appearance in text: rs2173904
PubMed Link: 29071050
Variant Present in the following documents:
  • Main text
  • hr-9-3-7051.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2173904
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



The Value of Online Algorithms to Predict T-Cell Ligands Created by Genetic Variants.

Plos One
van der Lee, Dyantha I DI; Pont, Margot J MJ; Falkenburg, J H Frederik JH; Griffioen, Marieke M
Publication Date: 2016

Variant appearance in text: rs2173904
PubMed Link: 27618304
Variant Present in the following documents:
  • Main text
  • pone.0162808.pdf
View BVdb publication page



Autosomal Minor Histocompatibility Antigens: How Genetic Variants Create Diversity in Immune Targets.

Frontiers In Immunology
Griffioen, Marieke M; van Bergen, Cornelis A M CA; Falkenburg, J H Frederik JH
Publication Date: 2016

Variant appearance in text: rs2173904
PubMed Link: 27014279
Variant Present in the following documents:
  • Main text
  • fimmu-07-00100.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2173904
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Genetic Geostatistical Framework for Spatial Analysis of Fine-Scale Genetic Heterogeneity in Modern Populations: Results from the KORA Study.

International Journal Of Genomics
Diaz-Lacava, A N AN; Walier, M M; Holler, D D; Steffens, M M; Gieger, C C; Furlanello, C C; Lamina, C C; Wichmann, H E HE; Becker, T T
Publication Date: 2015

Variant appearance in text: rs2173904
PubMed Link: 26258132
Variant Present in the following documents:
  • 693193.f1.pdf
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs2173904
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs2173904
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Toward targeting B cell cancers with CD4+ CTLs: identification of a CD19-encoded minor histocompatibility antigen using a novel genome-wide analysis.

The Journal Of Experimental Medicine
Spaapen, Robbert M RM; Lokhorst, Henk M HM; van den Oudenalder, Kelly K; Otterud, Brith E BE; Dolstra, Harry H; Leppert, Mark F MF; Minnema, Monique C MC; Bloem, Andries C AC; Mutis, Tuna T
Publication Date: 2008-11-24

Variant appearance in text: rs2173904
PubMed Link: 19001137
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotype frequencies of autosomal minor histocompatibility antigens display significant differences among populations.

Plos Genetics
Spierings, Eric E; Hendriks, Matthijs M; Absi, Léna L; Canossi, Angelica A; Chhaya, Sonal S; Crowley, John J; Dolstra, Harry H; Eliaou, Jean-François JF; Ellis, Tom T; Enczmann, Jürgen J; Fasano, Maria E ME; Gervais, Thibaut T; Gorodezky, Clara C; Kircher, Brigitte B; Laurin, David D; Leffell, Mary S MS; Loiseau, Pascale P; Malkki, Mari M; Markiewicz, Miroslaw M; Martinetti, Miryam M; Maruya, Etsuko E; Mehra, Narinder N; Oguz, Fatma F; Oudshoorn, Machteld M; Pereira, Noemi N; Rani, Rajni R; Sergeant, Ruhena R; Thomson, Jackie J; Tran, Thuong Hien TH; Turpeinen, Hannu H; Yang, Kuo-Liang KL; Zunec, Renata R; Carrington, Mary M; de Knijff, Peter P; Goulmy, Els E
Publication Date: 2007-06

Variant appearance in text: rs2173904
PubMed Link: 17604453
Variant Present in the following documents:
  • pgen.0030103.pdf
View BVdb publication page