Varaico: Literature-Extracted Genetic Variants

Gene:FAM83G
Variant:p.D262A
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FAM83G

NM_001039999.3:p.D262A

Associated Papers

Mutations within the predicted fragment-binding region of FAM83G/SACK1G abolish its interaction with the Ser/Thr kinase CK1α.

Utgés JS et al.

Open Biology, 2026

Pathogenic FAM83G palmoplantar keratoderma mutations inhibit the PAWS1:CK1α association and attenuate Wnt signalling.

Wu KZL et al.

Wellcome Open Research, 2019

The FAM83 family of proteins: from pseudo-PLDs to anchors for CK1 isoforms.

Bozatzi P et al.

Biochemical Society Transactions, 2018

The DUF1669 domain of FAM83 family proteins anchor casein kinase 1 isoforms.

Fulcher LJ et al.

Science Signaling, 2018

PAWS1 controls Wnt signalling through association with casein kinase 1α.

Bozatzi P et al.

Embo Reports, 2018

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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."