Variant ID: 19-51323232-T-G

NM_002257.3(KLK1):c.556A>C;(p.Lys186Gln)

This variant was identified in 12 publications




Publications:


Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
G Jungwirth, R Warta, C Beynon, F Sahm, A von Deimling, A Unterberg, C Herold-Mende, C Jungk
Publication Date: 2019-08-30

Variant appearance in text: rs5517
PubMed Link: 31470906
PubMed Central Link
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx
View BVdb publication page



Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

Journal Of Medical Genetics
I Galván-Femenía, M Obón-Santacana, D Piñeyro, M Guindo-Martinez, X Duran, A Carreras, R Pluvinet, J Velasco, L Ramos, S Aussó, JM Mercader, L Puig, M Perucho, D Torrents, V Moreno, L Sumoy, R de Cid
Publication Date: 2018-11

Variant appearance in text: rs5517
PubMed Link: 30166351
PubMed Central Link
Variant Present in the following documents:
  • jmedgenet-2018-105437supp007.pdf
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
SH Dai, JF Li, JB Feng, RJ Li, CB Li, Z Li, Y Zhang, DQ Li
Publication Date: 2016

Variant appearance in text: rs5517
PubMed Link: 27329205
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of gene-gene interactions among common variants in candidate cardiovascular genes in coronary artery disease.

Plos One
MD Musameh, WY Wang, CP Nelson, C Lluís-Ganella, R Debiec, I Subirana, R Elosua, AJ Balmforth, SG Ball, AS Hall, S Kathiresan, JR Thompson, G Lucas, NJ Samani, M Tomaszewski
Publication Date: 2015

Variant appearance in text: rs5517
PubMed Link: 25658981
PubMed Central Link
Variant Present in the following documents:
  • pone.0117684.s001.docx
View BVdb publication page



Pharmacogenetic effects of 'candidate gene complexes' on stroke in the GenHAT study.

Pharmacogenetics And Genomics
IF Sørensen, AI Vazquez, MR Irvin, P Sørensen, BR Davis, CE Ford, E Boerwinkle, JH Eckfeldt, DK Arnett
Publication Date: 2014-11

Variant appearance in text: rs5517
PubMed Link: 25171760
PubMed Central Link
Variant Present in the following documents:
  • NIHMS619369-supplement-SDC_4.xlsx
  • NIHMS619369-supplement-SDC_1.xlsx
  • NIHMS619369-supplement-SDC_3.xlsx
  • NIHMS619369-supplement-SDC_2.xlsx
View BVdb publication page



Variation in genes that regulate blood pressure are associated with glomerular filtration rate in Chinese.

Plos One
ME Montasser, LC Shimmin, D Gu, J Chen, C Gu, TN Kelly, CE Jaquish, TK Rice, DC Rao, J Cao, J Chen, De-PeLiu, PK Whelton, LL Hamm, J He, JE Hixson
Publication Date: 2014

Variant appearance in text: rs5517
PubMed Link: 24658007
PubMed Central Link
Variant Present in the following documents:
  • pone.0092468.s001.doc
View BVdb publication page



Copy number variants in the kallikrein gene cluster.

Plos One
P Lindahl, T Säll, A Bjartell, AM Johansson, H Lilja, C Halldén
Publication Date: 2013

Variant appearance in text: rs5517
PubMed Link: 23894413
PubMed Central Link
Variant Present in the following documents:
  • pone.0069097.s004.xls
View BVdb publication page



Interactions of genetic variants with physical activity are associated with blood pressure in Chinese: the GenSalt study.

American Journal Of Hypertension
ME Montasser, D Gu, J Chen, LC Shimmin, C Gu, TN Kelly, CE Jaquish, T Rice, DC Rao, J Cao, J Chen, DP Liu, PK Whelton, J He, JE Hixson
Publication Date: 2011-09

Variant appearance in text: rs5517
PubMed Link: 21654856
PubMed Central Link
Variant Present in the following documents:
  • NIHMS814595-supplement-01.pdf
View BVdb publication page



Effects of protein coding polymorphisms in the kallikrein 1 gene on baseline blood pressure and antihypertensive response to irbesartan in Chinese hypertensive patients.

Journal Of Human Hypertension
S Jiang, YH Hsu, SA Venners, Y Zhang, H Xing, X Wang, X Xu
Publication Date: 2011-05

Variant appearance in text: rs5517
PubMed Link: 20613781
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



KLK1 gene polymorphisms are not associated with lupus nephritis in a Chinese Han population.

The Journal Of Rheumatology
XJ Zhou, JC Lv, MH Zhao, H Zhang
Publication Date: 2010-06

Variant appearance in text: rs5517
PubMed Link: 20516044
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancer.

Cancer Prevention Research (Philadelphia, Pa.)
RJ Klein, C Halldén, AM Cronin, A Ploner, F Wiklund, AS Bjartell, P Stattin, J Xu, PT Scardino, K Offit, AJ Vickers, H Grönberg, H Lilja
Publication Date: 2010-05

Variant appearance in text: rs5517
PubMed Link: 20424135
PubMed Central Link
Variant Present in the following documents:
  • NIHMS167831-supplement-1.doc
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
K Liu, QZ Li, AM Delgado-Vega, AK Abelson, E Sánchez, JA Kelly, L Li, Y Liu, J Zhou, M Yan, Q Ye, S Liu, C Xie, XJ Zhou, SA Chung, B Pons-Estel, T Witte, E de Ramón, SC Bae, N Barizzone, GD Sebastiani, JT Merrill, PK Gregersen, GG Gilkeson, RP Kimberly, TJ Vyse, I Kim, S D'Alfonso, J Martin, JB Harley, LA Criswell, , , , , , , EK Wakeland, ME Alarcón-Riquelme, C Mohan
Publication Date: 2009-04

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



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000301420.2 c.556A>C p.Lys186Gln missense_variant 4/5 -
ENST00000448701.2 c.250A>C p.Lys84Gln missense_variant 5/6 -
ENST00000593325.1 c.*1365A>C - 3_prime_UTR_variant,NMD_transcript_variant 5/6 -
ENST00000593859.1 n.713A>C - non_coding_transcript_exon_variant 3/4 -
ENST00000596300.1 n.756A>C - non_coding_transcript_exon_variant 2/3 -
NM_002257.4 c.556A>C p.Lys186Gln missense_variant 4/5 -