Variant ID: 2-113539246-C-T

NM_000575.3(IL1A):c.254G>A;(p.Arg85Gln)

This variant was identified in 8 publications




Publications:


Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Plos One
SEM Lucas, T Zhou, NB Blackburn, RA Mills, J Ellis, P Leo, E Souzeau, B Ridge, JC Charlesworth, R Lindsay, JE Craig, KP Burdon
Publication Date: 2018

Variant appearance in text: rs3783531
PubMed Link: 29924831
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • pone.0199178.s003.xlsx
View BVdb publication page



Inflammatory pathway genes associated with inter-individual variability in the trajectories of morning and evening fatigue in patients receiving chemotherapy.

Cytokine
F Wright, M Hammer, SM Paul, BE Aouizerat, KM Kober, YP Conley, BA Cooper, LB Dunn, JD Levine, G DEramo Melkus, C Miaskowski
Publication Date: 2017-03

Variant appearance in text: rs3783531
PubMed Link: 28110208
PubMed Central Link
Variant Present in the following documents:
  • NIHMS845338-supplement.docx
View BVdb publication page



Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.

Scientific Reports
J Stuchlý, V Kanderová, M Vlková, I Heřmanová, L Slámová, O Pelák, E Taraldsrud, D Jílek, P Králíc Ková, B Fevang, M Trková, O Hrušák, E Froňková, A Šedivá, J Litzman, T Kalina
Publication Date: 2017-01-05

Variant appearance in text: IL1A: R85Q
PubMed Link: 28054583
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients.

Plos One
I Makhoul, VK Todorova, ER Siegel, SW Erickson, I Dhakal, VR Raj, JY Lee, MS Orloff, RJ Griffin, RS Henry-Tillman, S Klimberg, LF Hutchins, SA Kadlubar
Publication Date: 2017

Variant appearance in text: rs3783531
PubMed Link: 28045923
PubMed Central Link
Variant Present in the following documents:
  • pone.0168550.s006.xlsx
  • pone.0168550.s005.xlsx
  • pone.0168550.s007.xlsx
View BVdb publication page



A population-based case-control study of genetic variation in cytokine genes associated with risk of cervical and vulvar cancers.

Gynecologic Oncology
S Hardikar, LG Johnson, M Malkki, EW Petersdorf, DA Galloway, SM Schwartz, MM Madeleine
Publication Date: 2015-10

Variant appearance in text: rs3783531
PubMed Link: 26241630
PubMed Central Link
Variant Present in the following documents:
  • NIHMS716539-supplement.xlsx
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
JM Seddon, Y Yu, EC Miller, R Reynolds, PL Tan, S Gowrisankar, JI Goldstein, M Triebwasser, HE Anderson, J Zerbib, D Kavanagh, E Souied, N Katsanis, MJ Daly, JP Atkinson, S Raychaudhuri
Publication Date: 2013-11

Variant appearance in text: rs3783531
PubMed Link: 24036952
PubMed Central Link
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx
View BVdb publication page



Assessment of hepatocyte growth factor in ovarian cancer mortality.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
EL Goode, G Chenevix-Trench, LC Hartmann, BL Fridley, KR Kalli, RA Vierkant, MC Larson, KL White, GL Keeney, TN Oberg, JM Cunningham, J Beesley, SE Johnatty, X Chen, KE Goodman, SM Armasu, DN Rider, H Sicotte, MM Schmidt, EA Elliott, E Høgdall, SK Kjær, PA Fasching, AB Ekici, D Lambrechts, E Despierre, C Høgdall, L Lundvall, BY Karlan, J Gross, R Brown, J Chien, DJ Duggan, YY Tsai, CM Phelan, LE Kelemen, PP Peethambaram, JM Schildkraut, V Shridhar, R Sutphen, FJ Couch, TA Sellers,
Publication Date: 2011-08

Variant appearance in text: rs3783531
PubMed Link: 21724856
PubMed Central Link
Variant Present in the following documents:
  • NIHMS308552-supplement-1.xls
View BVdb publication page



A broad analysis of IL1 polymorphism and rheumatoid arthritis.

Arthritis And Rheumatism
AK Johnsen, RM Plenge, V Butty, C Campbell, R Dieguez-Gonzalez, JJ Gomez-Reino, N Shadick, M Weinblatt, A Gonzalez, PK Gregersen, C Benoist, D Mathis
Publication Date: 2008-07

Variant appearance in text: rs3783531
PubMed Link: 18576312
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263339.3 c.254G>A p.Arg85Gln missense_variant 4/7 -
NM_000575.5 c.254G>A p.Arg85Gln missense_variant 4/7 -
NM_001371554.1 c.254G>A p.Arg85Gln missense_variant 4/7 -