VKORC1 c.177G>C ;(p.W59C)

Variant ID: 16-31104739-C-G

NM_024006.4(VKORC1):c.177G>C;(p.W59C)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Missense VKOR mutants exhibit severe warfarin resistance but lack VKCFD via shifting to an aberrantly reduced state.

Blood Advances
Li, Shuang S; Sun, Jie J; Liu, Shixuan S; Zhou, Fengbo F; Gross, Michael M; Li, Weikai W
Publication Date: 2022-12-12

Variant appearance in text: VKORC1: W59C
PubMed Link: 36508285
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact.

Elife
Chiasson, Melissa A MA; Rollins, Nathan J NJ; Stephany, Jason J JJ; Sitko, Katherine A KA; Matreyek, Kenneth A KA; Verby, Marta M; Sun, Song S; Roth, Frederick P FP; DeSloover, Daniel D; Marks, Debora S DS; Rettie, Allan E AE; Fowler, Douglas M DM
Publication Date: 2020-09-01

Variant appearance in text: VKORC1: W59C
PubMed Link: 32870157
Variant Present in the following documents:
  • elife-58026.pdf
View BVdb publication page



Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA
Publication Date: 2018-11-08

Variant appearance in text: VKORC1: 177G>C
PubMed Link: 30409984
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_34815.pdf
View BVdb publication page



Structural Modeling Insights into Human VKORC1 Phenotypes.

Nutrients
Czogalla, Katrin J KJ; Watzka, Matthias M; Oldenburg, Johannes J
Publication Date: 2015-08-14

Variant appearance in text: VKORC1: Trp59Cys
PubMed Link: 26287237
Variant Present in the following documents:
  • Main text
View BVdb publication page



VKORC1 and VKORC1L1: Why do Vertebrates Have Two Vitamin K 2,3-Epoxide Reductases?

Nutrients
Oldenburg, Johannes J; Watzka, Matthias M; Bevans, Carville G CG
Publication Date: 2015-07-30

Variant appearance in text: VKORC1: W59C
PubMed Link: 26264021
Variant Present in the following documents:
  • Main text
  • nutrients-07-05280.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: VKORC1: W59C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling.

Bmc Genetics
Müller, Elisabeth E; Keller, Alexander A; Fregin, Andreas A; Müller, Clemens R CR; Rost, Simone S
Publication Date: 2014-02-04

Variant appearance in text: VKORC1: Trp59Cys
PubMed Link: 24491178
Variant Present in the following documents:
  • Main text
  • 1471-2156-15-17.pdf
View BVdb publication page