Variant ID: 15-28386626-C-T

NM_004667.5(HERC2):c.11967G>A;(p.Gln3989Gln)

This variant was identified in 10 publications




Publications:


Ancestors' dietary patterns and environments could drive positive selection in genes involved in micronutrient metabolism-the case of cofactor transporters.

Genes & Nutrition
S Parolo, S Lacroix, J Kaput, MP Scott-Boyer
Publication Date: 2017

Variant appearance in text: rs11636232
PubMed Link: 29043008
Variant Present in the following documents:
  • 12263_2017_579_MOESM7_ESM.xlsx
View BVdb publication page



Genetic markers of pigmentation are novel risk loci for uveal melanoma.

Scientific Reports
R Ferguson, M Vogelsang, E Ucisik-Akkaya, K Rai, R Pilarski, CN Martinez, J Rendleman, E Kazlow, K Nagdimov, I Osman, RJ Klein, FH Davidorf, CM Cebulla, MH Abdel-Rahman, T Kirchhoff
Publication Date: 2016-08-08

Variant appearance in text: rs11636232
PubMed Link: 27499155
Variant Present in the following documents:
  • srep31191-s1.doc
View BVdb publication page



Importance of nonsynonymous OCA2 variants in human eye color prediction.

Molecular Genetics & Genomic Medicine
JD Andersen, C Pietroni, P Johansen, MM Andersen, V Pereira, C Børsting, N Morling
Publication Date: 2016-07

Variant appearance in text: HERC2: Gln3989Gln; rs11636232
PubMed Link: 27468418
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of eye colours in different rural populations on the Silk Road.

European Journal Of Human Genetics : Ejhg
S Ulivi, M Mezzavilla, P Gasparini
Publication Date: 2013-11

Variant appearance in text: rs11636232
PubMed Link: 23486544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways.

Age (Dordrecht, Netherlands)
J Deelen, HW Uh, R Monajemi, D van Heemst, PE Thijssen, S Böhringer, EB van den Akker, AJ de Craen, F Rivadeneira, AG Uitterlinden, RG Westendorp, JJ Goeman, PE Slagboom, JJ Houwing-Duistermaat, M Beekman
Publication Date: 2013-02

Variant appearance in text: rs11636232
PubMed Link: 22113349
Variant Present in the following documents:
  • 11357_2011_9340_MOESM5_ESM.xls
View BVdb publication page



A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus.

Cancer Research
J Han, AA Qureshi, H Nan, J Zhang, Y Song, Q Guo, DJ Hunter
Publication Date: 2011-03-01

Variant appearance in text: rs11636232
PubMed Link: 21270109
Variant Present in the following documents:
  • NIHMS266593-supplement-1.docx
View BVdb publication page



Web-based, participant-driven studies yield novel genetic associations for common traits.

Plos Genetics
N Eriksson, JM Macpherson, JY Tung, LS Hon, B Naughton, S Saxonov, L Avey, A Wojcicki, I Pe'er, J Mountain
Publication Date: 2010-06-24

Variant appearance in text: rs11636232
PubMed Link: 20585627
Variant Present in the following documents:
  • pgen.1000993.s001.xls
  • pgen.1000993.s007.pdf
View BVdb publication page



Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.

Pigment Cell & Melanoma Research
MR Gerstenblith, J Shi, MT Landi
Publication Date: 2010-10

Variant appearance in text: rs11636232
PubMed Link: 20546537
Variant Present in the following documents:
  • Main text
  • NIHMS214020-supplement-Supp_Table_s1.doc
View BVdb publication page



Genetic determinants of hair and eye colours in the Scottish and Danish populations.

Bmc Genetics
J Mengel-From, TH Wong, N Morling, JL Rees, IJ Jackson
Publication Date: 2009-12-30

Variant appearance in text: HERC2: Q3989Q; rs11636232
PubMed Link: 20042077
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

Plos Genetics
J Han, P Kraft, H Nan, Q Guo, C Chen, A Qureshi, SE Hankinson, FB Hu, DL Duffy, ZZ Zhao, NG Martin, GW Montgomery, NK Hayward, G Thomas, RN Hoover, S Chanock, DJ Hunter
Publication Date: 2008-05-16

Variant appearance in text: rs11636232
PubMed Link: 18483556
Variant Present in the following documents:
  • Main text
  • pgen.1000074.s002.xls
  • pgen.1000074.s003.xls
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000261609.7 c.11967G>A p.Gln3989= synonymous_variant 78/93 -
NM_004667.5 c.11967G>A p.Gln3989= synonymous_variant 78/93 -