PIP5K1C c.991C>T ;(p.R331C)

Variant ID: 19-3651960-G-A

NM_012398.2(PIP5K1C):c.991C>T;(p.R331C)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: PIP5K1C: R331C
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree.

Molecular Psychiatry
Halvorsen, Matthew M; Szatkiewicz, Jin J; Mudgal, Poorva P; Yu, Dongmei D; , ; Nordsletten, Ashley E AE; Mataix-Cols, David D; Mathews, Carol A CA; Scharf, Jeremiah M JM; Mattheisen, Manuel M; Robertson, Mary M MM; McQuillin, Andrew A; Crowley, James J JJ
Publication Date: 2021-12

Variant appearance in text: PIP5K1C: 991C>T; Arg331Cys; rs146890276
PubMed Link: 34526668
Variant Present in the following documents:
  • NIHMS1735031-supplement-Supplemental_Tables.xlsx, sheet 3
View BVdb publication page



Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics
Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C
Publication Date: 2018-07-03

Variant appearance in text: PIP5K1C: 991C>T; Arg331Cys; rs146890276
PubMed Link: 29970176
Variant Present in the following documents:
  • 40246_2018_167_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: PIP5K1C: R331C
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: PIP5K1C: R331C
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs146890276
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page