HMMR c.1106T>A ;(p.V369D)

Variant ID: 5-162902516-T-A

NM_001142556.1(HMMR):c.1106T>A;(p.V369D)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Modification of BRCA1-associated breast cancer risk by HMMR overexpression.

Nature Communications
Mateo, Francesca F; He, Zhengcheng Z; Mei, Lin L; de Garibay, Gorka Ruiz GR; Herranz, Carmen C; García, Nadia N; Lorentzian, Amanda A; Baiges, Alexandra A; Blommaert, Eline E; Gómez, Antonio A; Mirallas, Oriol O; Garrido-Utrilla, Anna A; Palomero, Luis L; Espín, Roderic R; Extremera, Ana I AI; Soler-Monsó, M Teresa MT; Petit, Anna A; Li, Rong R; Brunet, Joan J; Chen, Ke K; Tan, Susanna S; Eaves, Connie J CJ; McCloskey, Curtis C; Hakem, Razq R; Khokha, Rama R; Lange, Philipp F PF; Lázaro, Conxi C; Maxwell, Christopher A CA; Pujana, Miquel Angel MA
Publication Date: 2022-04-07

Variant appearance in text: rs299290
PubMed Link: 35393420
Variant Present in the following documents:
  • Main text
  • 41467_2022_29335_MOESM2_ESM.pdf
  • 41467_2022_Article_29335.pdf
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs299290
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Breast cancer quantitative proteome and proteogenomic landscape.

Nature Communications
Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J
Publication Date: 2019-04-08

Variant appearance in text: rs299290
PubMed Link: 30962452
Variant Present in the following documents:
  • 41467_2019_9018_MOESM8_ESM.xlsx, sheet 2
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: rs299290
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
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: rs299290
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs299290
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.

Journal Of Breast Cancer
Sirisena, Nirmala Dushyanthi ND; Adeyemo, Adebowale A; Kuruppu, Anchala Ishani AI; Samaranayake, Nilakshi N; Dissanayake, Vajira Harshadeva Weerabaddana VHW
Publication Date: 2018-06

Variant appearance in text: rs299290
PubMed Link: 29963112
Variant Present in the following documents:
  • Main text
  • jbc-21-165.pdf
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: rs299290
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
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: rs299290
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: rs299290
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

Plos One
Blanco, Ignacio I; Kuchenbaecker, Karoline K; Cuadras, Daniel D; Wang, Xianshu X; Barrowdale, Daniel D; de Garibay, Gorka Ruiz GR; Librado, Pablo P; Sánchez-Gracia, Alejandro A; Rozas, Julio J; Bonifaci, Núria N; McGuffog, Lesley L; Pankratz, Vernon S VS; Islam, Abul A; Mateo, Francesca F; Berenguer, Antoni A; Petit, Anna A; Català, Isabel I; Brunet, Joan J; Feliubadaló, Lidia L; Tornero, Eva E; Benítez, Javier J; Osorio, Ana A; Ramón y Cajal, Teresa T; Nevanlinna, Heli H; Aittomäki, Kristiina K; Arun, Banu K BK; Toland, Amanda E AE; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; Greene, Mark H MH; Mai, Phuong L PL; Nussbaum, Robert L RL; Andrulis, Irene L IL; Domchek, Susan M SM; Nathanson, Katherine L KL; Rebbeck, Timothy R TR; Barkardottir, Rosa B RB; Jakubowska, Anna A; Lubinski, Jan J; Durda, Katarzyna K; Jaworska-Bieniek, Katarzyna K; Claes, Kathleen K; Van Maerken, Tom T; Díez, Orland O; Hansen, Thomas V TV; Jønson, Lars L; Gerdes, Anne-Marie AM; Ejlertsen, Bent B; de la Hoya, Miguel M; Caldés, Trinidad T; Dunning, Alison M AM; Oliver, Clare C; Fineberg, Elena E; Cook, Margaret M; Peock, Susan S; McCann, Emma E; Murray, Alex A; Jacobs, Chris C; Pichert, Gabriella G; Lalloo, Fiona F; Chu, Carol C; Dorkins, Huw H; Paterson, Joan J; Ong, Kai-Ren KR; Teixeira, Manuel R MR; , ; Hogervorst, Frans B L FB; van der Hout, Annemarie H AH; Seynaeve, Caroline C; van der Luijt, Rob B RB; Ligtenberg, Marjolijn J L MJ; Devilee, Peter P; Wijnen, Juul T JT; Rookus, Matti A MA; Meijers-Heijboer, Hanne E J HE; Blok, Marinus J MJ; van den Ouweland, Ans M W AM; Aalfs, Cora M CM; Rodriguez, Gustavo C GC; Phillips, Kelly-Anne A KA; Piedmonte, Marion M; Nerenstone, Stacy R SR; Bae-Jump, Victoria L VL; O'Malley, David M DM; Ratner, Elena S ES; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Rhiem, Kerstin K; Engel, Christoph C; Meindl, Alfons A; Ditsch, Nina N; Arnold, Norbert N; Plendl, Hansjoerg J HJ; Niederacher, Dieter D; Sutter, Christian C; Wang-Gohrke, Shan S; Steinemann, Doris D; Preisler-Adams, Sabine S; Kast, Karin K; Varon-Mateeva, Raymonda R; Gehrig, Andrea A; Bojesen, Anders A; Pedersen, Inge Sokilde IS; Sunde, Lone L; Jensen, Uffe Birk UB; Thomassen, Mads M; Kruse, Torben A TA; Foretova, Lenka L; Peterlongo, Paolo P; Bernard, Loris L; Peissel, Bernard B; Scuvera, Giulietta G; Manoukian, Siranoush S; Radice, Paolo P; Ottini, Laura L; Montagna, Marco M; Agata, Simona S; Maugard, Christine C; Simard, Jacques J; Soucy, Penny P; Berger, Andreas A; Fink-Retter, Anneliese A; Singer, Christian F CF; Rappaport, Christine C; Geschwantler-Kaulich, Daphne D; Tea, Muy-Kheng MK; Pfeiler, Georg G; , ; John, Esther M EM; Miron, Alex A; Neuhausen, Susan L SL; Terry, Mary Beth MB; Chung, Wendy K WK; Daly, Mary B MB; Goldgar, David E DE; Janavicius, Ramunas R; Dorfling, Cecilia M CM; van Rensburg, Elisabeth J EJ; Fostira, Florentia F; Konstantopoulou, Irene I; Garber, Judy J; Godwin, Andrew K AK; Olah, Edith E; Narod, Steven A SA; Rennert, Gad G; Paluch, Shani Shimon SS; Laitman, Yael Y; Friedman, Eitan E; , ; Liljegren, Annelie A; Rantala, Johanna J; Stenmark-Askmalm, Marie M; Loman, Niklas N; Imyanitov, Evgeny N EN; Hamann, Ute U; , ; Spurdle, Amanda B AB; Healey, Sue S; Weitzel, Jeffrey N JN; Herzog, Josef J; Margileth, David D; Gorrini, Chiara C; Esteller, Manel M; Gómez, Antonio A; Sayols, Sergi S; Vidal, Enrique E; Heyn, Holger H; , ; Stoppa-Lyonnet, Dominique D; Léoné, Melanie M; Barjhoux, Laure L; Fassy-Colcombet, Marion M; de Pauw, Antoine A; Lasset, Christine C; Ferrer, Sandra Fert SF; Castera, Laurent L; Berthet, Pascaline P; Cornelis, François F; Bignon, Yves-Jean YJ; Damiola, Francesca F; Mazoyer, Sylvie S; Sinilnikova, Olga M OM; Maxwell, Christopher A CA; Vijai, Joseph J; Robson, Mark M; Kauff, Noah N; Corines, Marina J MJ; Villano, Danylko D; Cunningham, Julie J; Lee, Adam A; Lindor, Noralane N; Lázaro, Conxi C; Easton, Douglas F DF; Offit, Kenneth K; Chenevix-Trench, Georgia G; Couch, Fergus J FJ; Antoniou, Antonis C AC; Pujana, Miguel Angel MA
Publication Date: 2015

Variant appearance in text: rs299290
PubMed Link: 25830658
Variant Present in the following documents:
  • Main text
  • pone.0120020.pdf
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: rs299290
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, 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: rs299290
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 3
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 11
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs299290
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
  • mmc5.xlsx, sheet 3
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs299290
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
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: rs299290
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Plos Biology
Maxwell, Christopher A CA; Benítez, Javier J; Gómez-Baldó, Laia L; Osorio, Ana A; Bonifaci, Núria N; Fernández-Ramires, Ricardo R; Costes, Sylvain V SV; Guinó, Elisabet E; Chen, Helen H; Evans, Gareth J R GJ; Mohan, Pooja P; Català, Isabel I; Petit, Anna A; Aguilar, Helena H; Villanueva, Alberto A; Aytes, Alvaro A; Serra-Musach, Jordi J; Rennert, Gad G; Lejbkowicz, Flavio F; Peterlongo, Paolo P; Manoukian, Siranoush S; Peissel, Bernard B; Ripamonti, Carla B CB; Bonanni, Bernardo B; Viel, Alessandra A; Allavena, Anna A; Bernard, Loris L; Radice, Paolo P; Friedman, Eitan E; Kaufman, Bella B; Laitman, Yael Y; Dubrovsky, Maya M; Milgrom, Roni R; Jakubowska, Anna A; Cybulski, Cezary C; Gorski, Bohdan B; Jaworska, Katarzyna K; Durda, Katarzyna K; Sukiennicki, Grzegorz G; Lubiński, Jan J; Shugart, Yin Yao YY; Domchek, Susan M SM; Letrero, Richard R; Weber, Barbara L BL; Hogervorst, Frans B L FB; Rookus, Matti A MA; Collee, J Margriet JM; Devilee, Peter P; Ligtenberg, Marjolijn J MJ; Luijt, Rob B van der RB; Aalfs, Cora M CM; Waisfisz, Quinten Q; Wijnen, Juul J; Roozendaal, Cornelis E P van CE; , ; , ; Easton, Douglas F DF; Peock, Susan S; Cook, Margaret M; Oliver, Clare C; Frost, Debra D; Harrington, Patricia P; Evans, D Gareth DG; Lalloo, Fiona F; Eeles, Rosalind R; Izatt, Louise L; Chu, Carol C; Eccles, Diana D; Douglas, Fiona F; Brewer, Carole C; Nevanlinna, Heli H; Heikkinen, Tuomas T; Couch, Fergus J FJ; Lindor, Noralane M NM; Wang, Xianshu X; Godwin, Andrew K AK; Caligo, Maria A MA; Lombardi, Grazia G; Loman, Niklas N; Karlsson, Per P; Ehrencrona, Hans H; Wachenfeldt, Anna von Av; , ; Barkardottir, Rosa Bjork RB; Hamann, Ute U; Rashid, Muhammad U MU; Lasa, Adriana A; Caldés, Trinidad T; Andrés, Raquel R; Schmitt, Michael M; Assmann, Volker V; Stevens, Kristen K; Offit, Kenneth K; Curado, João J; Tilgner, Hagen H; Guigó, Roderic R; Aiza, Gemma G; Brunet, Joan J; Castellsagué, Joan J; Martrat, Griselda G; Urruticoechea, Ander A; Blanco, Ignacio I; Tihomirova, Laima L; Goldgar, David E DE; Buys, Saundra S; John, Esther M EM; Miron, Alexander A; Southey, Melissa M; Daly, Mary B MB; , ; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Meindl, Alfons A; Arnold, Norbert N; Deissler, Helmut H; Varon-Mateeva, Raymonda R; Sutter, Christian C; Niederacher, Dieter D; Imyamitov, Evgeny E; Sinilnikova, Olga M OM; Stoppa-Lyonne, Dominique D; Mazoyer, Sylvie S; Verny-Pierre, Carole C; Castera, Laurent L; de Pauw, Antoine A; Bignon, Yves-Jean YJ; Uhrhammer, Nancy N; Peyrat, Jean-Philippe JP; Vennin, Philippe P; Fert Ferrer, Sandra S; Collonge-Rame, Marie-Agnès MA; Mortemousque, Isabelle I; , ; Spurdle, Amanda B AB; Beesley, Jonathan J; Chen, Xiaoqing X; Healey, Sue S; , ; Barcellos-Hoff, Mary Helen MH; Vidal, Marc M; Gruber, Stephen B SB; Lázaro, Conxi C; Capellá, Gabriel G; McGuffog, Lesley L; Nathanson, Katherine L KL; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Fleisch, Markus C MC; Moreno, Víctor V; Pujana, Miguel Angel MA
Publication Date: 2011-11

Variant appearance in text: rs299290
PubMed Link: 22110403
Variant Present in the following documents:
  • Main text
  • pbio.1001199.pdf
  • pbio.1001199.s013.xls, sheet 1
View BVdb publication page



Inference of the haplotype effect in a matched case-control study using unphased genotype data.

The International Journal Of Biostatistics
Sinha, Samiran S; Gruber, Stephen B SB; Mukherjee, Bhramar B; Rennert, Gad G
Publication Date: 2008-05-08

Variant appearance in text: rs299290
PubMed Link: 20231916
Variant Present in the following documents:
  • Main text
View BVdb publication page