UGT1A7 c.386A>G ;(p.N129S)

Variant ID: 2-234590969-A-G

NM_019077.2(UGT1A7):c.386A>G;(p.N129S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: UGT1A7: N129S
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 13
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: UGT1A7: 386A>G; Asn129Ser; rs56385016
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
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Cpipe: a shared variant detection pipeline designed for diagnostic settings.

Genome Medicine
Sadedin, Simon P SP; Dashnow, Harriet H; James, Paul A PA; Bahlo, Melanie M; Bauer, Denis C DC; Lonie, Andrew A; Lunke, Sebastian S; Macciocca, Ivan I; Ross, Jason P JP; Siemering, Kirby R KR; Stark, Zornitza Z; White, Susan M SM; , ; Taylor, Graham G; Gaff, Clara C; Oshlack, Alicia A; Thorne, Natalie P NP
Publication Date: 2015

Variant appearance in text: UGT1A7: N129S; rs56385016
PubMed Link: 26217397
Variant Present in the following documents:
  • 13073_2015_191_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.

Human Molecular Genetics
Tang, Wei W; Fu, Yi-Ping YP; Figueroa, Jonine D JD; Malats, Núria N; Garcia-Closas, Montserrat M; Chatterjee, Nilanjan N; Kogevinas, Manolis M; Baris, Dalsu D; Thun, Michael M; Hall, Jennifer L JL; De Vivo, Immaculata I; Albanes, Demetrius D; Porter-Gill, Patricia P; Purdue, Mark P MP; Burdett, Laurie L; Liu, Luyang L; Hutchinson, Amy A; Myers, Timothy T; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; Garcia-Closas, Reina R; Lloreta, Josep J; Johnson, Alison A; Schwenn, Molly M; Karagas, Margaret R MR; Schned, Alan A; Black, Amanda A; Jacobs, Eric J EJ; Diver, W Ryan WR; Gapstur, Susan M SM; Virtamo, Jarmo J; Hunter, David J DJ; Fraumeni, Joseph F JF; Chanock, Stephen J SJ; Silverman, Debra T DT; Rothman, Nathaniel N; Prokunina-Olsson, Ludmila L
Publication Date: 2012-04-15

Variant appearance in text: rs56385016
PubMed Link: 22228101
Variant Present in the following documents:
  • Main text
View BVdb publication page