Varaico: Literature-Extracted Genetic Variants

Gene:DEAF1
Variant:p.K304T
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DEAF1

NM_021008.4:p.K304T

Associated Papers

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

Vulto-van Silfhout AT et al.

American Journal of Human Genetics, 2014

Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1).

Jensik PJ et al.

The Journal of Biological Chemistry, 2004

The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation.

Bottomley MJ et al.

Nature Structural Biology, 2001

Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding domain and represses transcription of the heterogeneous nuclear ribonucleoprotein A2/B1 promoter.

Michelson RJ et al.

The Journal of Biological Chemistry, 1999

Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein.

Huggenvik JI et al.

Molecular Endocrinology (baltimore, Md.), 1998

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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."