Varaico: Literature-Extracted Genetic Variants

Gene:DACT1
Variant:p.E46Q
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DACT1

NM_001079520.2:p.E46Q

Associated Papers

Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.

Christians A et al.

Human Genetics, 2023

36066768 (PubMed )
Supplement: 439_2022_2481_MOESM2_ESM.xlsx › Supplementary_Table_5

Purine activity of RNase T1RV is further improved by substitution of Trp59 by tyrosine.

Czaja R et al.

Biochemical and Biophysical Research Communications, 2005

Structural analysis of an RNase T1 variant with an altered guanine binding segment.

Höschler K et al.

Journal of Molecular Biology, 1999

His92Ala mutation in ribonuclease T1 induces segmental flexibility. An X-ray study.

Koellner G et al.

Journal of Molecular Biology, 1992

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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."