UGT2A2 c.1332-109C>A

Variant ID: 4-70455478-G-T

NM_001105677.2(UGT2A2):c.1332-109C>A

This variant was identified in 10 publications

View GRCh38 version.




Publications:


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: rs2288741
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



A Prognostic and Carboplatin Response Predictive Model in Ovarian Cancer: A Mono-Institutional Retrospective Study Based on Clinics and Pharmacogenomics.

Biomedicines
Staropoli, Nicoletta N; Arbitrio, Mariamena M; Salvino, Angela A; Scionti, Francesca F; Ciliberto, Domenico D; Ingargiola, Rossana R; Labanca, Caterina C; Agapito, Giuseppe G; Iuliano, Eleonora E; Barbieri, Vito V; Cucè, Maria M; Zuccalà, Valeria V; Cannataro, Mario M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P
Publication Date: 2022-05-23

Variant appearance in text: rs2288741
PubMed Link: 35625946
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01210.pdf
View BVdb publication page



Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology
Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J
Publication Date: 2021-09

Variant appearance in text: rs2288741
PubMed Link: 34621706
Variant Present in the following documents:
  • tcp-29-135-s001.xls, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs2288741
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: rs2288741
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM1_ESM.pdf
View BVdb publication page



Evaluation of vitamin D biosynthesis and pathway target genes reveals UGT2A1/2 and EGFR polymorphisms associated with epithelial ovarian cancer in African American Women.

Cancer Medicine
Grant, Delores J DJ; Manichaikul, Ani A; Alberg, Anthony J AJ; Bandera, Elisa V EV; Barnholtz-Sloan, Jill J; Bondy, Melissa M; Cote, Michele L ML; Funkhouser, Ellen E; Moorman, Patricia G PG; Peres, Lauren C LC; Peters, Edward S ES; Schwartz, Ann G AG; Terry, Paul D PD; Wang, Xin-Qun XQ; Keku, Temitope O TO; Hoyo, Cathrine C; Berchuck, Andrew A; Sandler, Dale P DP; Taylor, Jack A JA; O'Brien, Katie M KM; Velez Edwards, Digna R DR; Edwards, Todd L TL; Beeghly-Fadiel, Alicia A; Wentzensen, Nicolas N; Pearce, Celeste Leigh CL; Wu, Anna H AH; Whittemore, Alice S AS; McGuire, Valerie V; Sieh, Weiva W; Rothstein, Joseph H JH; Modugno, Francesmary F; Ness, Roberta R; Moysich, Kirsten K; Rossing, Mary Anne MA; Doherty, Jennifer A JA; Sellers, Thomas A TA; Permuth-Way, Jennifer B JB; Monteiro, Alvaro N AN; Levine, Douglas A DA; Setiawan, Veronica Wendy VW; Haiman, Christopher A CA; LeMarchand, Loic L; Wilkens, Lynne R LR; Karlan, Beth Y BY; Menon, Usha U; Ramus, Susan S; Gayther, Simon S; Gentry-Maharaj, Aleksandra A; Terry, Kathryn L KL; Cramer, Daniel W DW; Goode, Ellen L EL; Larson, Melissa C MC; Kaufmann, Scott H SH; Cannioto, Rikki R; Odunsi, Kunle K; Etter, John L JL; Huang, Ruea-Yea RY; Bernardini, Marcus Q MQ; Tone, Alicia A AA; May, Taymaa T; Goodman, Marc T MT; Thompson, Pamela J PJ; Carney, Michael E ME; Tworoger, Shelley S SS; Poole, Elizabeth M EM; Lambrechts, Diether D; Vergote, Ignace I; Vanderstichele, Adriaan A; Van Nieuwenhuysen, Els E; Anton-Culver, Hoda H; Ziogas, Argyrios A; Brenton, James D JD; Bjorge, Line L; Salvensen, Helga B HB; Kiemeney, Lambertus A LA; Massuger, Leon F A G LFAG; Pejovic, Tanja T; Bruegl, Amanda A; Moffitt, Melissa M; Cook, Linda L; Le, Nhu D ND; Brooks-Wilson, Angela A; Kelemen, Linda E LE; Pharoah, Paul D P PDP; Song, Honglin H; Campbell, Ian I; Eccles, Diana D; DeFazio, Anna A; Kennedy, Catherine J CJ; Schildkraut, Joellen M JM
Publication Date: 2019-05

Variant appearance in text: rs2288741
PubMed Link: 31001917
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs2288741
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.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: rs2288741
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs2288741
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs2288741
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page