MAMSTR c.480C>T ;(p.P160=)

Variant ID: 19-49218111-G-A

NM_001130915.1(MAMSTR):c.480C>T;(p.P160=)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: MAMSTR: P160P
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Variants Tagging LGALS-3 Haplotype Block in Association with First Myocardial Infarction and Plasma Galectin-3 Six Months after the Acute Event.

Genes
Djordjevic, Ana A; Zivkovic, Maja M; Boskovic, Maja M; Dekleva, Milica M; Stankovic, Goran G; Stankovic, Aleksandra A; Djuric, Tamara T
Publication Date: 2022-12-29

Variant appearance in text: rs33988101
PubMed Link: 36672849
Variant Present in the following documents:
  • Main text
  • genes-14-00109.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs33988101
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs33988101
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_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: rs33988101
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: N/A
PubMed Link: 33420045
Variant Present in the following documents:
View BVdb publication page



Genomic analysis of diet composition finds novel loci and associations with health and lifestyle.

Molecular Psychiatry
Meddens, S Fleur W SFW; de Vlaming, Ronald R; Bowers, Peter P; Burik, Casper A P CAP; Linnér, Richard Karlsson RK; Lee, Chanwook C; Okbay, Aysu A; Turley, Patrick P; Rietveld, Cornelius A CA; Fontana, Mark Alan MA; Ghanbari, Mohsen M; Imamura, Fumiaki F; McMahon, George G; van der Most, Peter J PJ; Voortman, Trudy T; Wade, Kaitlin H KH; Anderson, Emma L EL; Braun, Kim V E KVE; Emmett, Pauline M PM; Esko, Tonũ T; Gonzalez, Juan R JR; Kiefte-de Jong, Jessica C JC; Langenberg, Claudia C; Luan, Jian'an J; Muka, Taulant T; Ring, Susan S; Rivadeneira, Fernando F; Snieder, Harold H; van Rooij, Frank J A FJA; Wolffenbuttel, Bruce H R BHR; , ; , ; , ; Smith, George Davey GD; Franco, Oscar H OH; Forouhi, Nita G NG; Ikram, M Arfan MA; Uitterlinden, Andre G AG; van Vliet-Ostaptchouk, Jana V JV; Wareham, Nick J NJ; Cesarini, David D; Harden, K Paige KP; Lee, James J JJ; Benjamin, Daniel J DJ; Chow, Carson C CC; Koellinger, Philipp D PD
Publication Date: 2021-06

Variant appearance in text: rs33988101
PubMed Link: 32393786
Variant Present in the following documents:
  • Main text
  • 41380_2020_Article_697.pdf
View BVdb publication page



Genomic analysis of diet composition finds novel loci and associations with health and lifestyle.

Molecular Psychiatry
Meddens, S Fleur W SFW; de Vlaming, Ronald R; Bowers, Peter P; Burik, Casper A P CAP; Linnér, Richard Karlsson RK; Lee, Chanwook C; Okbay, Aysu A; Turley, Patrick P; Rietveld, Cornelius A CA; Fontana, Mark Alan MA; Ghanbari, Mohsen M; Imamura, Fumiaki F; McMahon, George G; van der Most, Peter J PJ; Voortman, Trudy T; Wade, Kaitlin H KH; Anderson, Emma L EL; Braun, Kim V E KVE; Emmett, Pauline M PM; Esko, Tonũ T; Gonzalez, Juan R JR; Kiefte-de Jong, Jessica C JC; Langenberg, Claudia C; Luan, Jian'an J; Muka, Taulant T; Ring, Susan S; Rivadeneira, Fernando F; Snieder, Harold H; van Rooij, Frank J A FJA; Wolffenbuttel, Bruce H R BHR; , ; , ; , ; Smith, George Davey GD; Franco, Oscar H OH; Forouhi, Nita G NG; Ikram, M Arfan MA; Uitterlinden, Andre G AG; van Vliet-Ostaptchouk, Jana V JV; Wareham, Nick J NJ; Cesarini, David D; Harden, K Paige KP; Lee, James J JJ; Benjamin, Daniel J DJ; Chow, Carson C CC; Koellinger, Philipp D PD
Publication Date: 2021-06

Variant appearance in text: rs33988101
PubMed Link: 32393786
Variant Present in the following documents:
  • Main text
  • 41380_2020_Article_697.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs33988101
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_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: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs33988101
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Abnormal islet sphingolipid metabolism in type 1 diabetes.

Diabetologia
Holm, Laurits J LJ; Krogvold, Lars L; Hasselby, Jane P JP; Kaur, Simranjeet S; Claessens, Laura A LA; Russell, Mark A MA; Mathews, Clayton E CE; Hanssen, Kristian F KF; Morgan, Noel G NG; Koeleman, Bobby P C BPC; Roep, Bart O BO; Gerling, Ivan C IC; Pociot, Flemming F; Dahl-Jørgensen, Knut K; Buschard, Karsten K
Publication Date: 2018-07

Variant appearance in text: rs33988101
PubMed Link: 29671030
Variant Present in the following documents:
  • Main text
  • 125_2018_Article_4614.pdf
View BVdb publication page



Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.

Plos Genetics
Folkersen, Lasse L; Fauman, Eric E; Sabater-Lleal, Maria M; Strawbridge, Rona J RJ; Frånberg, Mattias M; Sennblad, Bengt B; Baldassarre, Damiano D; Veglia, Fabrizio F; Humphries, Steve E SE; Rauramaa, Rainer R; de Faire, Ulf U; Smit, Andries J AJ; Giral, Philippe P; Kurl, Sudhir S; Mannarino, Elmo E; Enroth, Stefan S; Johansson, Åsa Å; Enroth, Sofia Bosdotter SB; Gustafsson, Stefan S; Lind, Lars L; Lindgren, Cecilia C; Morris, Andrew P AP; Giedraitis, Vilmantas V; Silveira, Angela A; Franco-Cereceda, Anders A; Tremoli, Elena E; , ; Gyllensten, Ulf U; Ingelsson, Erik E; Brunak, Søren S; Eriksson, Per P; Ziemek, Daniel D; Hamsten, Anders A; Mälarstig, Anders A
Publication Date: 2017-04

Variant appearance in text: rs33988101
PubMed Link: 28369058
Variant Present in the following documents:
  • Main text
  • pgen.1006706.pdf
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: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25333361
Variant Present in the following documents:
View BVdb publication page