Varaico: Literature-Extracted Genetic Variants

Gene:MERTK
Variant:p.M1I
Back to variants list

MERTK

NM_006343.3:p.M1I

Associated Papers

MERTK mutation update in inherited retinal diseases.

Audo I et al.

Human Mutation, 2018

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa.

Jonsson F et al.

Molecular Vision, 2018

A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.

Jinda W et al.

Molecular Vision, 2016

O-helix mutant T664P of Thermus aquaticus DNA polymerase I: altered catalytic properties for incorporation of incorrect nucleotides but not correct nucleotides.

Tosaka A et al.

The Journal of Biological Chemistry, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."