QPCT c.160C>A ;(p.R54=)

Variant ID: 2-37579971-C-A

NM_012413.3(QPCT):c.160C>A;(p.R54=)

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: rs2255991
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.

Nature Communications
Yin, Xianyong X; Chan, Lap Sum LS; Bose, Debraj D; Jackson, Anne U AU; VandeHaar, Peter P; Locke, Adam E AE; Fuchsberger, Christian C; Stringham, Heather M HM; Welch, Ryan R; Yu, Ketian K; Fernandes Silva, Lilian L; Service, Susan K SK; Zhang, Daiwei D; Hector, Emily C EC; Young, Erica E; Ganel, Liron L; Das, Indraniel I; Abel, Haley H; Erdos, Michael R MR; Bonnycastle, Lori L LL; Kuusisto, Johanna J; Stitziel, Nathan O NO; Hall, Ira M IM; Wagner, Gregory R GR; , ; Kang, Jian J; Morrison, Jean J; Burant, Charles F CF; Collins, Francis S FS; Ripatti, Samuli S; Palotie, Aarno A; Freimer, Nelson B NB; Mohlke, Karen L KL; Scott, Laura J LJ; Wen, Xiaoquan X; Fauman, Eric B EB; Laakso, Markku M; Boehnke, Michael M
Publication Date: 2022-03-28

Variant appearance in text: rs2255991
PubMed Link: 35347128
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29143.pdf
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: rs2255991
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: rs2255991
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Diet-induced gene expression of isolated pancreatic islets from a polygenic mouse model of the metabolic syndrome.

Diabetologia
Dreja, T T; Jovanovic, Z Z; Rasche, A A; Kluge, R R; Herwig, R R; Tung, Y C L YC; Joost, H G HG; Yeo, G S H GS; Al-Hasani, H H
Publication Date: 2010-02

Variant appearance in text: rs2255991
PubMed Link: 19902174
Variant Present in the following documents:
  • Main text
  • 125_2009_Article_1576.pdf
View BVdb publication page