KLK1 c.556A>C ;(p.K186Q)

Variant ID: 19-51323232-T-G

NM_002257.3(KLK1):c.556A>C;(p.K186Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs5517
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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: rs5517
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Association of serum levels of AngII, KLK1, and ACE/KLK1 polymorphisms with acute myocardial infarction induced by coronary artery stenosis.

Journal Of The Renin-Angiotensin-Aldosterone System : Jraas
Dai, Shu-hong SH; Li, Ji-fu JF; Feng, Jin-bo JB; Li, Rui-jian RJ; Li, Chuan-bao CB; Li, Zhuo Z; Zhang, Yun Y; Li, Da-qing DQ
Publication Date: 2016

Variant appearance in text: rs5517
PubMed Link: 27329205
Variant Present in the following documents:
  • Main text
  • 10.1177_1470320316655037.pdf
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: rs5517
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs5517
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Kallikrein genes are associated with lupus and glomerular basement membrane-specific antibody-induced nephritis in mice and humans.

The Journal Of Clinical Investigation
Liu, Kui K; Li, Quan-Zhen QZ; Delgado-Vega, Angelica M AM; Abelson, Anna-Karin AK; Sánchez, Elena E; Kelly, Jennifer A JA; Li, Li L; Liu, Yang Y; Zhou, Jinchun J; Yan, Mei M; Ye, Qiu Q; Liu, Shenxi S; Xie, Chun C; Zhou, Xin J XJ; Chung, Sharon A SA; Pons-Estel, Bernardo B; Witte, Torsten T; de Ramón, Enrique E; Bae, Sang-Cheol SC; Barizzone, Nadia N; Sebastiani, Gian Domenico GD; Merrill, Joan T JT; Gregersen, Peter K PK; Gilkeson, Gary G GG; Kimberly, Robert P RP; Vyse, Timothy J TJ; Kim, Il I; D'Alfonso, Sandra S; Martin, Javier J; Harley, John B JB; Criswell, Lindsey A LA; , ; , ; , ; , ; , ; , ; Wakeland, Edward K EK; Alarcón-Riquelme, Marta E ME; Mohan, Chandra C
Publication Date: 2009-04

Variant appearance in text: rs5517
PubMed Link: 19307730
Variant Present in the following documents:
  • Main text
View BVdb publication page