rs777634395

This variant is located in the TRAIP gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters2 publications

not provided; Seckel syndrome 9; Inborn genetic diseases

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About TRAIP

This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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