AKR1B1 c.825+95A>C

Variant ID: 7-134131955-T-G

NM_001628.2(AKR1B1):c.825+95A>C

This variant was identified in 5 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: rs2259458
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: AKR1B1: 825+95A>C; rs2259458
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Multiple hypotheses testing procedures in clinical trials and genomic studies.

Frontiers In Public Health
Pan, Qing Q
Publication Date: 2013

Variant appearance in text: rs2259458
PubMed Link: 24350232
Variant Present in the following documents:
  • Main text
  • fpubh-01-00063.pdf
View BVdb publication page



Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility.

Diabetes Care
Abhary, Sotoodeh S; Burdon, Kathryn P KP; Laurie, Kate J KJ; Thorpe, Stacey S; Landers, John J; Goold, Lucy L; Lake, Stewart S; Petrovsky, Nikolai N; Craig, Jamie E JE
Publication Date: 2010-08

Variant appearance in text: rs2259458
PubMed Link: 20424224
Variant Present in the following documents:
  • Main text
  • zdc1834.pdf
View BVdb publication page



Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Genetics study.

Diabetes
Al-Kateb, Hussam H; Boright, Andrew P AP; Mirea, Lucia L; Xie, Xinlei X; Sutradhar, Rinku R; Mowjoodi, Alireza A; Bharaj, Bhupinder B; Liu, Michelle M; Bucksa, Jean M JM; Arends, Valerie L VL; Steffes, Michael W MW; Cleary, Patricia A PA; Sun, Wanjie W; Lachin, John M JM; Thorner, Paul S PS; Ho, Michael M; McKnight, Amy Jayne AJ; Maxwell, A Peter AP; Savage, David A DA; Kidd, Kenneth K KK; Kidd, Judith R JR; Speed, William C WC; Orchard, Trevor J TJ; Miller, Rachel G RG; Sun, Lei L; Bull, Shelley B SB; Paterson, Andrew D AD; ,
Publication Date: 2008-01

Variant appearance in text: rs2259458
PubMed Link: 17914031
Variant Present in the following documents:
  • Main text
View BVdb publication page