GIMAP6 c.511G>C ;(p.G171R)

Variant ID: 7-150325175-C-G

NM_024711.5(GIMAP6):c.511G>C;(p.G171R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs13234724
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.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: rs13234724
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
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: rs13234724
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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: rs13234724
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

Plos One
de Vries, Paul S PS; Sabater-Lleal, Maria M; Chasman, Daniel I DI; Trompet, Stella S; Ahluwalia, Tarunveer S TS; Teumer, Alexander A; Kleber, Marcus E ME; Chen, Ming-Huei MH; Wang, Jie Jin JJ; Attia, John R JR; Marioni, Riccardo E RE; Steri, Maristella M; Weng, Lu-Chen LC; Pool, Rene R; Grossmann, Vera V; Brody, Jennifer A JA; Venturini, Cristina C; Tanaka, Toshiko T; Rose, Lynda M LM; Oldmeadow, Christopher C; Mazur, Johanna J; Basu, Saonli S; Frånberg, Mattias M; Yang, Qiong Q; Ligthart, Symen S; Hottenga, Jouke J JJ; Rumley, Ann A; Mulas, Antonella A; de Craen, Anton J M AJ; Grotevendt, Anne A; Taylor, Kent D KD; Delgado, Graciela E GE; Kifley, Annette A; Lopez, Lorna M LM; Berentzen, Tina L TL; Mangino, Massimo M; Bandinelli, Stefania S; Morrison, Alanna C AC; Hamsten, Anders A; Tofler, Geoffrey G; de Maat, Moniek P M MP; Draisma, Harmen H M HH; Lowe, Gordon D GD; Zoledziewska, Magdalena M; Sattar, Naveed N; Lackner, Karl J KJ; Völker, Uwe U; McKnight, Barbara B; Huang, Jie J; Holliday, Elizabeth G EG; McEvoy, Mark A MA; Starr, John M JM; Hysi, Pirro G PG; Hernandez, Dena G DG; Guan, Weihua W; Rivadeneira, Fernando F; McArdle, Wendy L WL; Slagboom, P Eline PE; Zeller, Tanja T; Psaty, Bruce M BM; Uitterlinden, André G AG; de Geus, Eco J C EJ; Stott, David J DJ; Binder, Harald H; Hofman, Albert A; Franco, Oscar H OH; Rotter, Jerome I JI; Ferrucci, Luigi L; Spector, Tim D TD; Deary, Ian J IJ; März, Winfried W; Greinacher, Andreas A; Wild, Philipp S PS; Cucca, Francesco F; Boomsma, Dorret I DI; Watkins, Hugh H; Tang, Weihong W; Ridker, Paul M PM; Jukema, Jan W JW; Scott, Rodney J RJ; Mitchell, Paul P; Hansen, Torben T; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Strachan, David P DP; Dehghan, Abbas A
Publication Date: 2017

Variant appearance in text: rs13234724
PubMed Link: 28107422
Variant Present in the following documents:
  • Main text
  • pone.0167742.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: rs13234724
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs13234724
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11
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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: rs13234724
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page