Varaico: Literature-Extracted Genetic Variants

Gene:TRAF3IP1
Variant:p.V125A
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TRAF3IP1

NM_015650.4:p.V125A

Associated Papers

Dynein-2-driven intraciliary retrograde trafficking indirectly requires multiple interactions of IFT54 in the IFT-B complex with the dynein-2 complex.

Hiyamizu S et al.

Biology Open, 2023

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Bizet AA et al.

Nature Communications, 2015

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