Variant ID: 1-246089811-G-A

NM_022743.2(SMYD3):c.525+1422C>T

This variant was identified in 9 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: rs6426327
PubMed Link: 31470906
PubMed Central Link
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx
View BVdb publication page


Genetic variants influence on the placenta regulatory landscape.

Plos Genetics
F Delahaye, C Do, Y Kong, R Ashkar, M Salas, B Tycko, R Wapner, F Hughes
Publication Date: 2018-11

Variant appearance in text: rs6426327
PubMed Link: 30452450
PubMed Central Link
Variant Present in the following documents:
  • pgen.1007785.s019.xlsx
View BVdb publication page


Admixture Mapping of Subclinical Atherosclerosis and Subsequent Clinical Events Among African Americans in 2 Large Cohort Studies.

Circulation. Cardiovascular Genetics
A Shendre, H Wiener, MR Irvin, D Zhi, NA Limdi, ET Overton, CL Wassel, J Divers, JI Rotter, WS Post, S Shrestha
Publication Date: 2017-04

Variant appearance in text: rs6426327
PubMed Link: 28408707
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page


Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

American Journal Of Human Genetics
R Law, T Dixon-Salazar, J Jerber, N Cai, AA Abbasi, MS Zaki, K Mittal, SB Gabriel, MA Rafiq, V Khan, M Nguyen, G Ali, B Copeland, E Scott, N Vasli, A Mikhailov, MN Khan, DM Andrade, M Ayaz, M Ansar, M Ayub, JB Vincent, JG Gleeson
Publication Date: 2014-12-04

Variant appearance in text: rs6426327
PubMed Link: 25480035
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
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: rs6426327
PubMed Link: 25171760
PubMed Central Link
Variant Present in the following documents:
  • NIHMS619369-supplement-SDC_1.xlsx
  • NIHMS619369-supplement-SDC_2.xlsx
View BVdb publication page


Novel insights into the regulatory architecture of CD4+ T cells in rheumatoid arthritis.

Plos One
A Aterido, C Palacio, S Marsal, G Avila, A Julià
Publication Date: 2014

Variant appearance in text: rs6426327
PubMed Link: 24959711
PubMed Central Link
Variant Present in the following documents:
  • pone.0100690.s007.xls
View BVdb publication page


Convergent evidence that choline acetyltransferase gene variation is associated with prospective smoking cessation and nicotine dependence.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
R Ray, N Mitra, D Baldwin, M Guo, F Patterson, DF Heitjan, C Jepson, EP Wileyto, J Wei, T Payne, JZ Ma, MD Li, C Lerman
Publication Date: 2010-05

Variant appearance in text: rs6426327
PubMed Link: 20147892
PubMed Central Link
Variant Present in the following documents:
  • npp20107x2.xls
View BVdb publication page


Association of the HSPG2 gene with neuroleptic-induced tardive dyskinesia.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
A Syu, H Ishiguro, T Inada, Y Horiuchi, S Tanaka, M Ishikawa, M Arai, M Itokawa, K Niizato, S Iritani, N Ozaki, M Takahashi, A Kakita, H Takahashi, H Nawa, K Keino-Masu, E Arikawa-Hirasawa, T Arinami
Publication Date: 2010-04

Variant appearance in text: rs6426327
PubMed Link: 20072119
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page


Genome-wide association study of bipolar disorder in European American and African American individuals.

Molecular Psychiatry
EN Smith, CS Bloss, JA Badner, T Barrett, PL Belmonte, W Berrettini, W Byerley, W Coryell, D Craig, HJ Edenberg, E Eskin, T Foroud, E Gershon, TA Greenwood, M Hipolito, DL Koller, WB Lawson, C Liu, F Lohoff, MG McInnis, FJ McMahon, DB Mirel, SS Murray, C Nievergelt, J Nurnberger, EA Nwulia, J Paschall, JB Potash, J Rice, TG Schulze, W Scheftner, C Panganiban, N Zaitlen, PP Zandi, S Zöllner, NJ Schork, JR Kelsoe
Publication Date: 2009-08

Variant appearance in text: rs6426327
PubMed Link: 19488044
PubMed Central Link
Variant Present in the following documents:
  • NIHMS178631-supplement-Table_S7.xls
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366516.1 n.1057+1422C>T - intron_variant,non_coding_transcript_variant - 2/6
ENST00000366517.1 n.566+1422C>T - intron_variant,non_coding_transcript_variant - 4/8
ENST00000388985.4 c.702+1422C>T - intron_variant - 7/11
ENST00000391836.2 c.135+1422C>T - intron_variant - 4/6
ENST00000464398.1 n.351+1422C>T - intron_variant,non_coding_transcript_variant - 3/4
ENST00000470510.1 n.171+1422C>T - intron_variant,non_coding_transcript_variant - 2/7
ENST00000488153.1 n.316+1422C>T - intron_variant,non_coding_transcript_variant - 3/5
ENST00000490107.1 c.525+1422C>T - intron_variant - 7/11
ENST00000492487.1 n.262+1422C>T - intron_variant,non_coding_transcript_variant - 3/5
ENST00000493441.1 n.340+1422C>T - intron_variant,non_coding_transcript_variant - 3/6
ENST00000541742.1 c.525+1422C>T - intron_variant - 7/11
NM_001167740.2 c.702+1422C>T - intron_variant - 7/11
NM_022743.2 c.525+1422C>T - intron_variant - 7/11