ARHGAP45 c.416G>C ;(p.R139P)

Variant ID: 19-1068738-G-C

NM_012292.3(ARHGAP45):c.416G>C;(p.R139P)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Transgenic HA-1-Specific CD8+ T-Lymphocytes Selectively Target Leukemic Cells.

Cancers
Pilunov, Artem A; Romaniuk, Dmitrii S DS; Shmelev, Anton A; Sheetikov, Savely S; Gabashvili, Anna N AN; Khmelevskaya, Alexandra A; Dianov, Dmitry D; Zornikova, Ksenia K; Shakirova, Naina T NT; Vagida, Murad M; Bogolyubova, Apollinariya A; Efimov, Grigory A GA
Publication Date: 2023-03-03

Variant appearance in text: rs1801284
PubMed Link: 36900382
Variant Present in the following documents:
  • Main text
  • cancers-15-01592.pdf
View BVdb publication page



Shared graft-vs-leukemia minor histocompatibility antigens in DISCOVeRY-BMT.

Blood Advances
Olsen, Kelly Shea KS; Jadi, Othmane O; Dexheimer, Sarah S; Bortone, Dante S DS; Vensko, Steven P SP; Bennett, Sarah Nicole SN; Tang, Hancong H; Diiorio, Marisa M; Saran, Tanvi T; Dingfelder, David D; Zhu, Qianqian Q; Wang, Yiwen Y; Haiman, Christopher A CA; Pooler, Loreall L; Sheng, Xin X; Webb, Amy A; Pasquini, Marcelo C MC; McCarthy, Philip L PL; Spellman, Stephen R SR; Weimer, Eric T ET; Hahn, Theresa T; Sucheston-Campbell, Lara E LE; Armistead, Paul M PM; Vincent, Benjamin B
Publication Date: 2022-12-07

Variant appearance in text: rs1801284
PubMed Link: 36477467
Variant Present in the following documents:
  • BLOODA_ADV-2022-008863-mmc1.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs1801284
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs1801284
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: rs1801284
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: rs1801284
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Exome-Wide Association Study Identifies FN3KRP and PGP as New Candidate Longevity Genes.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Torres, Guillermo G GG; Nygaard, Marianne M; Caliebe, Amke A; Blanché, Hélène H; Chantalat, Sophie S; Galan, Pilar P; Lieb, Wolfgang W; Christiansen, Lene L; Deleuze, Jean-François JF; Christensen, Kaare K; Strauch, Konstantin K; Müller-Nurasyid, Martina M; Peters, Annette A; Nöthen, Markus M MM; Hoffmann, Per P; Flachsbart, Friederike F; Schreiber, Stefan S; Ellinghaus, David D; Franke, Andre A; Dose, Janina J; Nebel, Almut A
Publication Date: 2021-04-30

Variant appearance in text: rs1801284
PubMed Link: 33491046
Variant Present in the following documents:
  • Main text
  • glab023.pdf
View BVdb publication page



Minor Histocompatibility Antigen-Specific T Cells.

Frontiers In Pediatrics
Summers, Corinne C; Sheth, Vipul S VS; Bleakley, Marie M
Publication Date: 2020

Variant appearance in text: rs1801284
PubMed Link: 32582592
Variant Present in the following documents:
  • Main text
  • fped-08-00284.pdf
View BVdb publication page



Optimized Whole Genome Association Scanning for Discovery of HLA Class I-Restricted Minor Histocompatibility Antigens.

Frontiers In Immunology
Fuchs, Kyra J KJ; Honders, M Willy MW; van der Meijden, Edith D ED; Adriaans, Alwin E AE; van der Lee, Dyantha I DI; Pont, Margot J MJ; Monajemi, Ramin R; Kielbasa, Szymon M SM; 't Hoen, Peter A C PAC; van Bergen, Cornelis A M CAM; Falkenburg, J H Frederik JHF; Griffioen, Marieke M
Publication Date: 2020

Variant appearance in text: rs1801284
PubMed Link: 32362897
Variant Present in the following documents:
  • Main text
  • fimmu-11-00659.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: rs1801284
PubMed Link: 31275297
Variant Present in the following documents:
  • Main text
  • fimmu-10-01226.pdf
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: rs1801284
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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: rs1801284
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: rs1801284
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: rs1801284
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: rs1801284
PubMed Link: 27618304
Variant Present in the following documents:
  • Main text
  • pone.0162808.pdf
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: rs1801284
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
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: rs1801284
PubMed Link: 27014279
Variant Present in the following documents:
  • Main text
  • fimmu-07-00100.pdf
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: rs1801284
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Exploiting T cells specific for human minor histocompatibility antigens for therapy of leukemia.

Immunology And Cell Biology
Bleakley, Marie M; Riddell, Stanley R SR
Publication Date: 2011-03

Variant appearance in text: rs1801284
PubMed Link: 21301477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Does minor histocompatibility antigen HA-1 disparity affect the occurrence of graft-versus-host disease in tunisian recipients of hematopoietic stem cells?

Clinics (Sao Paulo, Brazil)
Sellami, Mohamed Hichem MH; Torjemane, Lamia L; Arias, Alejandro Espadas de AE; Kaabi, Houda H; Ladeb, Saloua S; Poli, Francesca F; Othmane, Tarek Ben TB; Hmida, Slama S
Publication Date: 2010

Variant appearance in text: rs1801284
PubMed Link: 21243279
Variant Present in the following documents:
  • Main text
View BVdb publication page



HSPVdb--the Human Short Peptide Variation Database for improved mass spectrometry-based detection of polymorphic HLA-ligands.

Immunogenetics
Nijveen, Harm H; Kester, Michel G D MG; Hassan, Chopie C; Viars, Aurélie A; de Ru, Arnoud H AH; de Jager, Machiel M; Falkenburg, J H Fred JH; Leunissen, Jack A M JA; van Veelen, Peter A PA
Publication Date: 2011-03

Variant appearance in text: rs1801284
PubMed Link: 21125265
Variant Present in the following documents:
  • Main text
  • 251_2010_Article_497.pdf
View BVdb publication page



HapMap scanning of novel human minor histocompatibility antigens.

Blood
Kamei, Michi M; Nannya, Yasuhito Y; Torikai, Hiroki H; Kawase, Takakazu T; Taura, Kenjiro K; Inamoto, Yoshihiro Y; Takahashi, Taro T; Yazaki, Makoto M; Morishima, Satoko S; Tsujimura, Kunio K; Miyamura, Koichi K; Ito, Tetsuya T; Togari, Hajime H; Riddell, Stanley R SR; Kodera, Yoshihisa Y; Morishima, Yasuo Y; Takahashi, Toshitada T; Kuzushima, Kiyotaka K; Ogawa, Seishi S; Akatsuka, Yoshiki Y
Publication Date: 2009-05-21

Variant appearance in text: rs1801284
PubMed Link: 18809759
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: rs1801284
PubMed Link: 17604453
Variant Present in the following documents:
  • pgen.0030103.pdf
View BVdb publication page