LIG4 c.8C>T ;(p.A3V)

Variant ID: 13-108863609-G-A

NM_206937.1(LIG4):c.8C>T;(p.A3V)

This variant was identified in 29 publications

View GRCh38 version.




Publications:


Association of Polymorphisms in NHEJ Pathway Genes with HIV-1 Infection and AIDS Progression in a Northern Chinese MSM Population.

Disease Markers
Zhang, Xuelong X; Wang, Xi X; Mo, Han H; Hu, Yuanting Y; Yang, Yi Y; Yang, Xun X; Wu, Jiawei J; Liu, Bangquan B; Xu, Lidan L; Sun, Haiming H; Jia, Xueyuan X; Wang, Ping P; Wang, Kaili K; Sun, Wenjing W; Fu, Songbin S; Qiao, Yuandong Y
Publication Date: 2022

Variant appearance in text: rs1805389
PubMed Link: 36312587
Variant Present in the following documents:
  • DM2022-5126867.pdf
View BVdb publication page



Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: LIG4: 8C>T; Ala3Val; rs1805389
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances
Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q
Publication Date: 2022-09-27

Variant appearance in text: LIG4: A3V
PubMed Link: 35687490
Variant Present in the following documents:
  • Main text
  • advancesADV2021006654-suppl1.xlsx, sheet 1
  • advancesADV2021006654.pdf
View BVdb publication page



Polymorphisms Within DNA Double-Strand Breaks Repair-Related Genes Contribute to Structural Chromosome Abnormality in Recurrent Pregnancy Loss.

Frontiers In Genetics
Cheng, Zhenbo Z; Cheng, Dehua D; Li, Jiancheng J; Guo, Lihuang L; Zhang, Wei W; Zhang, Conghui C; Liu, Yangxu Y; Huang, Yue Y; Xu, Keqian K
Publication Date: 2021

Variant appearance in text: rs1805389
PubMed Link: 35003222
Variant Present in the following documents:
  • Main text
  • fgene-12-787718.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: LIG4: 8C>T; A3V; rs1805389
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page



Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene
Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N
Publication Date: 2020-05

Variant appearance in text: LIG4: A3V; rs1805389
PubMed Link: 32300177
Variant Present in the following documents:
  • 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: LIG4: 8C>T; Ala3Val; rs1805389
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: LIG4: 8C>T; Ala3Val
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: LIG4: A3V; rs1805389
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1805389
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.

Frontiers In Pediatrics
Staines Boone, Aidé Tamara AT; Chinn, Ivan K IK; Alaez-Versón, Carmen C; Yamazaki-Nakashimada, Marco A MA; Carrillo-Sánchez, Karol K; García-Cruz, María de la Luz Hortensia MLH; Poli, M Cecilia MC; González Serrano, M Edith ME; Medina Torres, Edgar A EA; Muzquiz Zermeño, David D; Forbes, Lisa R LR; Espinosa-Rosales, Francisco J FJ; Espinosa-Padilla, Sara E SE; Orange, Jordan S JS; Lugo Reyes, Saul Oswaldo SO
Publication Date: 2018

Variant appearance in text: LIG4: 8C>T; A3V
PubMed Link: 30719430
Variant Present in the following documents:
  • Main text
  • fped-06-00426.pdf
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: LIG4: A3V; rs1805389
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: LIG4: 8C>T; Ala3Val; rs1805389
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Clinical and Genetic Risk Prediction of Subsequent CNS Tumors in Survivors of Childhood Cancer: A Report From the COG ALTE03N1 Study.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Wang, Xuexia X; Sun, Can-Lan CL; Hageman, Lindsey L; Smith, Kandice K; Singh, Purnima P; Desai, Sunil S; Hawkins, Douglas S DS; Hudson, Melissa M MM; Mascarenhas, Leo L; Neglia, Joseph P JP; Oeffinger, Kevin C KC; Ritchey, A Kim AK; Robison, Leslie L LL; Villaluna, Doojduen D; Landier, Wendy W; Bhatia, Smita S
Publication Date: 2017-11-10

Variant appearance in text: rs1805389
PubMed Link: 28976792
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: LIG4: 8C>T; Ala3Val
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: LIG4: A3V; rs1805389
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Among 45 variants in 11 genes, HDM2 promoter polymorphisms emerge as new candidate biomarker associated with radiation toxicity.

3 Biotech
Alsbeih, Ghazi G; El-Sebaie, Medhat M; Al-Rajhi, Nasser N; Al-Harbi, Najla N; Al-Hadyan, Khaled K; Al-Qahtani, Sara S; Alsubael, Mohammad M; Al-Shabanah, Mohammad M; Moftah, Belal B
Publication Date: 2014-04

Variant appearance in text: rs1805389
PubMed Link: 28324443
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.

Bmc Medical Genetics
Fadda, Abeer A; Butt, Fiza F; Tomei, Sara S; Deola, Sara S; Lo, Bernice B; Robay, Amal A; Al-Shakaki, Alya A; Al-Hajri, Noor N; Crystal, Ronald R; Kambouris, Marios M; Wang, Ena E; Marincola, Francesco M FM; Fakhro, Khalid A KA; Cugno, Chiara C
Publication Date: 2016-11-17

Variant appearance in text: LIG4: A3V
PubMed Link: 27855655
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_346.pdf
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: LIG4: 8C>T; Ala3Val
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
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: rs1805389
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.

Journal Of Alzheimer'S Disease : Jad
Denvir, James J; Neitch, Shirley S; Fan, Jun J; Niles, Richard M RM; Boskovic, Goran G; Schreurs, Bernard G BG; Primerano, Donald A DA; Alkon, Daniel L DL
Publication Date: 2015

Variant appearance in text: rs1805389
PubMed Link: 25812849
Variant Present in the following documents:
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: LIG4: A3V
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: LIG4: A3V; rs1805389
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs1805389
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



SNPs in genes implicated in radiation response are associated with radiotoxicity and evoke roles as predictive and prognostic biomarkers.

Radiation Oncology (London, England)
Alsbeih, Ghazi G; El-Sebaie, Medhat M; Al-Harbi, Najla N; Al-Hadyan, Khaled K; Shoukri, Mohamed M; Al-Rajhi, Nasser N
Publication Date: 2013-05-22

Variant appearance in text: rs1805389
PubMed Link: 23697595
Variant Present in the following documents:
  • Main text
  • 1748-717X-8-125.pdf
View BVdb publication page



Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

British Journal Of Cancer
Kweekel, D M DM; Antonini, N F NF; Nortier, J W R JW; Punt, C J A CJ; Gelderblom, H H; Guchelaar, H-J HJ
Publication Date: 2009-07-21

Variant appearance in text: rs1805389
PubMed Link: 19536092
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in an individual human exome.

Plos Genetics
Ng, Pauline C PC; Levy, Samuel S; Huang, Jiaqi J; Stockwell, Timothy B TB; Walenz, Brian P BP; Li, Kelvin K; Axelrod, Nelson N; Busam, Dana A DA; Strausberg, Robert L RL; Venter, J Craig JC
Publication Date: 2008-08-15

Variant appearance in text: rs1805389
PubMed Link: 18704161
Variant Present in the following documents:
  • Main text
  • pgen.1000160.pdf
View BVdb publication page



Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: rs1805389
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
View BVdb publication page