WRN c.3397T>G ;(p.S1133A)

Variant ID: 8-31004582-T-G

NM_000553.4(WRN):c.3397T>G;(p.S1133A)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Identification of polymorphisms in cancer patients that differentially affect survival with age.

Aging
Doherty, Aoife A; Kernogitski, Yelena Y; Kulminski, Alexander M AM; Pedro de Magalhães, João J
Publication Date: 2017-10-20

Variant appearance in text: rs11574358
PubMed Link: 29064820
Variant Present in the following documents:
  • Main text
  • aging-09-2117.pdf
View BVdb publication page



Way out/way in: How the relationship between WRN and CDK1 may change the fate of collapsed replication forks.

Molecular & Cellular Oncology
Palermo, Valentina V; Rinalducci, Sara S; Sanchez, Massimo M; Grillini, Francesca F; Franchitto, Annapaola A; Pichierri, Pietro P
Publication Date: 2017

Variant appearance in text: WRN: S1133A
PubMed Link: 28197541
Variant Present in the following documents:
  • Main text
View BVdb publication page



CDK1 phosphorylates WRN at collapsed replication forks.

Nature Communications
Palermo, Valentina V; Rinalducci, Sara S; Sanchez, Massimo M; Grillini, Francesca F; Sommers, Joshua A JA; Brosh, Robert M RM; Zolla, Lello L; Franchitto, Annapaola A; Pichierri, Pietro P
Publication Date: 2016-09-16

Variant appearance in text: WRN: S1133A
PubMed Link: 27634057
Variant Present in the following documents:
  • Main text
  • ncomms12880-s2.pdf
  • ncomms12880.pdf
  • ncomms12880-s1.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: rs11574358
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: WRN: S1133A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database.

Bioinformatics (Oxford, England)
Leslie, Richard R; O'Donnell, Christopher J CJ; Johnson, Andrew D AD
Publication Date: 2014-06-15

Variant appearance in text: WRN: S1133A; rs11574358
PubMed Link: 24931982
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inter-chromosomal level of genome organization and longevity-related phenotypes in humans.

Age (Dordrecht, Netherlands)
Kulminski, Alexander M AM; Culminskaya, Irina I; Yashin, Anatoli I AI
Publication Date: 2013-04

Variant appearance in text: rs11574358
PubMed Link: 22282054
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: WRN: S1133A; rs11574358
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File011.xls, sheet 1
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 1
View BVdb publication page