RPGRIP1 c.1639G>T ;(p.A547S)

Variant ID: 14-21790040-G-T

NM_020366.3(RPGRIP1):c.1639G>T;(p.A547S)

This variant was identified in 32 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: RPGRIP1: A547S
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy.

Open Life Sciences
Liu, Zeyuan Z; Wang, He H; He, Xiaoli X; Tao, Dan D; Li, Li L
Publication Date: 2023

Variant appearance in text: RPGRIP1: 1639G>T
PubMed Link: 36713053
Variant Present in the following documents:
  • Main text
  • biol-2022-0532.pdf
View BVdb publication page



Genetics of congenital anomalies of the hand.

World Journal Of Orthopedics
Kyriazis, Zisis Z; Kollia, Panagoula P; Grivea, Ioanna I; Sotiriou, Sotirios S; Dailiana, Zoe H ZH
Publication Date: 2022-11-18

Variant appearance in text: RPGRIP1: 1639G>T
PubMed Link: 36439370
Variant Present in the following documents:
  • WJO-13-949.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: RPGRIP1: A547S; rs10151259
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



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: RPGRIP1: A547S; rs10151259
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: RPGRIP1: A547S; rs10151259
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: RPGRIP1: A547S
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: RPGRIP1: 1639G>T; A547S; rs10151259
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
  • CNR2-4-e1335-s003.xlsx, sheet 2
View BVdb publication page



Genome diversity in Ukraine.

Gigascience
Oleksyk, Taras K TK; Wolfsberger, Walter W WW; Weber, Alexandra M AM; Shchubelka, Khrystyna K; Oleksyk, Olga T OT; Levchuk, Olga O; Patrus, Alla A; Lazar, Nelya N; Castro-Marquez, Stephanie O SO; Hasynets, Yaroslava Y; Boldyzhar, Patricia P; Neymet, Mikhailo M; Urbanovych, Alina A; Stakhovska, Viktoriya V; Malyar, Kateryna K; Chervyakova, Svitlana S; Podoroha, Olena O; Kovalchuk, Natalia N; Rodriguez-Flores, Juan L JL; Zhou, Weichen W; Medley, Sarah S; Battistuzzi, Fabia F; Liu, Ryan R; Hou, Yong Y; Chen, Siru S; Yang, Huanming H; Yeager, Meredith M; Dean, Michael M; Mills, Ryan E RE; Smolanka, Volodymyr V
Publication Date: 2021-01-13

Variant appearance in text: rs10151259
PubMed Link: 33438729
Variant Present in the following documents:
  • Main text
  • giaa159_giga-d-20-00230_revision_2.pdf
  • giaa159.pdf
View BVdb publication page



New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?

International Journal Of Molecular Sciences
Donato, Luigi L; Scimone, Concetta C; Alibrandi, Simona S; Abdalla, Ebtesam Mohamed EM; Nabil, Karim Mahmoud KM; D'Angelo, Rosalia R; Sidoti, Antonina A
Publication Date: 2020-12-23

Variant appearance in text: RPGRIP: A547S; rs10151259
PubMed Link: 33374679
Variant Present in the following documents:
  • Main text
  • ijms-22-00070.pdf
View BVdb publication page



Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Genome Biology
Maddirevula, Sateesh S; Kuwahara, Hiroyuki H; Ewida, Nour N; Shamseldin, Hanan E HE; Patel, Nisha N; Alzahrani, Fatema F; AlSheddi, Tarfa T; AlObeid, Eman E; Alenazi, Mona M; Alsaif, Hessa S HS; Alqahtani, Maha M; AlAli, Maha M; Al Ali, Hatoon H; Helaby, Rana R; Ibrahim, Niema N; Abdulwahab, Firdous F; Hashem, Mais M; Hanna, Nadine N; Monies, Dorota D; Derar, Nada N; Alsagheir, Afaf A; Alhashem, Amal A; Alsaleem, Badr B; Alhebbi, Hamoud H; Wali, Sami S; Umarov, Ramzan R; Gao, Xin X; Alkuraya, Fowzan S FS
Publication Date: 2020-06-17

Variant appearance in text: RPGRIP1: 1639G>T; Ala547Ser
PubMed Link: 32552793
Variant Present in the following documents:
  • 13059_2020_2053_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: RPGRIP1: A547S; rs10151259
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

Molecular Genetics & Genomic Medicine
Akdeniz, Demet D; Tuncer, Seref Bugra SB; Kebudi, Rejin R; Celik, Betul B; Kuru, Gozde G; Kilic, Seda S; Sukruoglu Erdogan, Ozge O; Avsar, Mukaddes M; Buyukkapu Bay, Sema S; Tuncer, Samuray S; Yazici, Hulya H
Publication Date: 2019-08

Variant appearance in text: RPGRIP1: Ala547Ser; rs10151259
PubMed Link: 31207142
Variant Present in the following documents:
  • Main text
  • MGG3-7-e785.pdf
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: RPGRIP1: A547S; rs10151259
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
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: RPGRIP1: A547S; rs10151259
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports
Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM
Publication Date: 2018-07-19

Variant appearance in text: rs10151259
PubMed Link: 30026549
Variant Present in the following documents:
  • Main text
  • 41598_2018_29279_MOESM1_ESM.pdf
  • 41598_2018_Article_29279.pdf
View BVdb publication page



Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics
Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,
Publication Date: 2018-03-06

Variant appearance in text: RPGRIP1: 1639G>T; Ala547Ser; rs10151259
PubMed Link: 29510755
Variant Present in the following documents:
  • 12920_2018_338_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)
Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J
Publication Date: 2018

Variant appearance in text: RPGRIP1: 1639G>T; Ala547Ser; rs10151259
PubMed Link: 29343940
Variant Present in the following documents:
  • Main text
  • opth-12-049.pdf
View BVdb publication page



The genetic profile of Leber congenital amaurosis in an Australian cohort.

Molecular Genetics & Genomic Medicine
Thompson, Jennifer A JA; De Roach, John N JN; McLaren, Terri L TL; Montgomery, Hannah E HE; Hoffmann, Ling H LH; Campbell, Isabella R IR; Chen, Fred K FK; Mackey, David A DA; Lamey, Tina M TM
Publication Date: 2017-11

Variant appearance in text: RPGRIP1: 1639G>T; Ala547Ser
PubMed Link: 29178642
Variant Present in the following documents:
  • MGG3-5-652-s003.pdf
  • MGG3-5-652-s001.pdf
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: RPGRIP1: 1639G>T; Ala547Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: CORD13: A547S; rs10151259
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015

Variant appearance in text: RPGRIP1: 1639G>T; A547S; rs10151259
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 2
View BVdb publication page



Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

Genomics Data
John, Sumi Elsa SE; Thareja, Gaurav G; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O
Publication Date: 2015-03

Variant appearance in text: RPGRIP1: A547S; rs10151259
PubMed Link: 26484159
Variant Present in the following documents:
  • Main text
  • main.pdf
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: RPGRIP1: A547S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: RPGRIP1: A547S; rs10151259
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
  • 12864_2015_1290_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs10151259
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, 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: RPGRIP1: A547S; rs10151259
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The molecular basis of retinal dystrophies in pakistan.

Genes
Khan, Muhammad Imran MI; Azam, Maleeha M; Ajmal, Muhammad M; Collin, Rob W J RW; den Hollander, Anneke I AI; Cremers, Frans P M FP; Qamar, Raheel R
Publication Date: 2014-03-11

Variant appearance in text: RPGRIP1: 1639G>T; Ala547Ser; rs10151259
PubMed Link: 24705292
Variant Present in the following documents:
  • Main text
  • genes-05-00176.pdf
View BVdb publication page



Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj
O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ
Publication Date: 2013

Variant appearance in text: RPGRIP1: 1639G>T; Ala547Ser; rs10151259
PubMed Link: 24109560
Variant Present in the following documents:
  • peerj-01-177-s010.xlsx, sheet 1
View BVdb publication page



Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.

Plos One
Verma, Anshuman A; Perumalsamy, Vijayalakshmi V; Shetty, Shashikant S; Kulm, Maigi M; Sundaresan, Periasamy P
Publication Date: 2013

Variant appearance in text: RPGRIP1: A547S; rs10151259
PubMed Link: 24066033
Variant Present in the following documents:
  • Main text
  • pone.0073172.pdf
View BVdb publication page



Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

Advances In Experimental Medicine And Biology
Fahim, Abigail T AT; Bowne, Sara J SJ; Sullivan, Lori S LS; Webb, Kaylie D KD; Williams, Jessica T JT; Wheaton, Dianna K DK; Birch, David G DG; Daiger, Stephen P SP
Publication Date: 2012

Variant appearance in text: RPGRIP1: A547S
PubMed Link: 22183348
Variant Present in the following documents:
  • Main text
View BVdb publication page