Publications:

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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	-